Materiały źródłowe

• #1 Congenital adrenal hyperplasia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/symptoms-causes/syc-20355205

  There is no cure for congenital adrenal hyperplasia. But with proper treatment, most people who have CAH can lead full lives. […] If you’re thinking of starting a family and you’re at risk of having a child with CAH, talk with your healthcare professional. You may be told to see a genetic counselor.

• #2 Congenital Adrenal Hyperplasia | Texas DSHS

  https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/congenital-adrenal-hyperplasia-cah/congenital-adrenal-hyperplasia-a

  With regular medication, your child with CAH can lead a normal life. There are no known intellectual disabilities associated with CAH. The life expectancy is normal. Women with CAH (if they take their medications as directed) have no difficulties becoming pregnant or carrying a baby, and men who take their medications appropriately have normal fertility.

• #3 Congenital adrenal hyperplasia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/congenital-adrenal-hyperplasia

  The goal of treatment is to return hormone levels to normal, or near normal. Treatment may include taking: […] Medicine should be taken daily. People may need additional doses of medicine during times of stress, such as severe illness or surgery. Lifelong monitoring is needed to ensure that proper hormone levels are maintained. […] A team of health care professionals with expertise in CAH will work together to treat the child and support the family. This team may include neonatologists, geneticists, endocrinologists, and psychiatrists or social workers. […] Working with a mental health professional is an important part of a treatment plan for children with CAH and their families.

• #4 Congenital adrenal hyperplasia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000411.htm

  A team of health care professionals with expertise in CAH will work together to treat the child and support the family. […] Female children with ambiguous genitalia may need surgery to improve function and to create a more typical female appearance. […] Working with a mental health professional is an important part of a treatment plan for children with CAH and their families.

• #5 Congenital adrenal hyperplasia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/diagnosis-treatment/drc-20355211

  For children, a healthcare professional likely will make a referral to a specialist in childhood hormonal issues. This specialist is called a pediatric endocrinologist. For adults, a referral often is made to an adult endocrinologist. The treatment team also may include other healthcare professionals such as: […] Treatment may include medicines, surgery and mental health support. […] The goal of treating CAH with medicines is to lower the amount of androgens the body makes and replace hormones the body lacks. People with classic CAH can manage the condition by taking hormone replacement medicines throughout their lives. […] Medicines for CAH are taken every day. During illnesses or times of serious stress, other medicines or higher doses may be needed. […] Regular checkups are needed to make sure the medicines work well.

• #6 Medication for Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/treatments/medication-for-congenital-adrenal-hyperplasia

  Doctors at Hassenfeld Childrens Hospital at NYU Langone manage congenital adrenal hyperplasia in babies and children with medications to replace missing hormones and salt. Treatment is started immediately for newborns with the salt-wasting type, in which low levels of the hormones cortisol and aldosterone can lead to a life-threatening drop in blood pressure and shock. […] Children with the classic type of congenital adrenal hyperplasia need to take medication for life. Your childs doctor may temporarily increase the medication dosage when your child is ill; before he or she has surgery; or after an injury, since the body requires more cortisol in stressful situations. […] Hormone replacement therapy is used to restore missing hormones in children with congenital adrenal hyperplasia. Glucocorticoid medications, also known as corticosteroids, are used to increase cortisol levels and decrease androgen production in babies and children with the classic type.

• #7 What are the treatments for congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/treatments

  Treatments for CAH include medication and surgery as well as psychological support. […] Classic CAH is treated with steroids that replace the low hormones. […] Infants and children usually take a form of cortisol called hydrocortisone. […] Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol. […] Patients with classic CAH also take another medicine, fludrocortisone, to replace aldosterone. […] People who have classic CAH need to wear a medical alert identification bracelet or necklace. […] Patients with classic CAH need to take medication daily for their entire lives. […] Symptoms of nonclassic CAH that signal that the patient may need treatment are: Early puberty, Excess body hair, Irregular menstrual periods (females), Infertility. […] Girls who are born with ambiguous external genitalia may need surgery. […] Surgery for treatment of classic CAH should be done by an experienced surgeon who has expertise with this specific type of surgery.

• #8 Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia

  If you have classic CAH, youll need to take these medications daily for life. If you stop taking the medications, your symptoms will return. […] Another treatment option includes surgery for ambiguous genitalia. Surgery two to six months after birth can correct the appearance and function of your babys genitals. In some cases, it may be appropriate to delay surgery for several years. […] If you dont have any symptoms, you may not need treatment. If you have mild symptoms, you may need a low dose of glucocorticoids. You usually wont need lifelong treatment. […] If you or your child has CAH, its important to seek mental healthcare to address any concerns. Mental healthcare is an important part of CAH treatment and can lead to an improved quality of life.

• #9 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.

• #10 Medication for Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/treatments/medication-for-congenital-adrenal-hyperplasia

  For babies and young children, our doctors prescribe a type of glucocorticoid medication called hydrocortisone, which is taken daily by mouth. Older children who are finished growing may need more potent, longer-acting corticosteroids such as prednisolone or dexamethasone, which are also taken by mouth. […] Children with classic congenital adrenal hyperplasia are also treated with a synthetic mineralocorticoid medication called fludrocortisone. This medication maintains normal salt levels. […] Doctors prescribe salt replacement medications in combination with fludrocortisone for infants with salt-wasting congenital adrenal hyperplasia. These medications are taken by mouth. After age three, a child is encouraged to eat salty foods to increase sodium in the diet.

• #11 Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence – Journal of Clinical Research in Pediatric Endocrinology

  https://www.jcrpe.org/articles/treatment-and-follow-up-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-childhood-and-adolescence/doi/jcrpe.galenos.2024.2024-6-26-S

  Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. In the treatment of classical CAH, it is necessary to replace both glucocorticoid (GC) and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin. GC therapy is recommended in children with inappropriately early onset and rapidly progressing pubarche or accelerated bone age progression, and in adolescents with non-classical CAH (NCCAH) who have overt virilization. The aim of treatment with GC is to prevent adrenal crisis, prevent hyperandrogenemia, and ensure normal age-appropriate growth and puberty. A good knowledge of the pharmacokinetic and pharmacodynamic properties of GCs is important in evaluating the treatment of individual CAH patients. The first choice GC in growing children is hydrocortisone (HC), a synthetic form of cortisol. In children, it is recommended to divide the tablets and give them with water or food. Fludrocortisone should be given at 100-200 g/day in 1 or 2 doses. During adolescence, hormonal control is often difficult even if the maintenance dose is adequate and treatment compliance is good. Continuous GC and mineralocorticoid administration during the transition from adolescence to adulthood is necessary to prevent morbidity and mortality, especially from adrenal crises. In classical CAH treatment, it is necessary to replace both GC and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin, which triggers adrenal androgen release. In affected but stable cases in the neonatal period, HC is started at an average dose of 20-30 mg/m2/day. In childhood, instead of long-acting GCs, treatment should be continued at a maintenance dose with HC, which has the least negative effects and side effects on growth, and fludrocortisone should be added to the treatment regimen in those with mineralocorticoid deficiency. In patients with NCCAH, stress doses of HC are given for major surgery, trauma, or childbirth only if the patient has a suboptimal cortisol response to the ACTH test.

• #12 What are the treatments for congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/treatments

  Treatments for CAH include medication and surgery as well as psychological support. […] Classic CAH is treated with steroids that replace the low hormones. […] Infants and children usually take a form of cortisol called hydrocortisone. […] Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol. […] Patients with classic CAH also take another medicine, fludrocortisone, to replace aldosterone. […] People who have classic CAH need to wear a medical alert identification bracelet or necklace. […] Patients with classic CAH need to take medication daily for their entire lives. […] Symptoms of nonclassic CAH that signal that the patient may need treatment are: Early puberty, Excess body hair, Irregular menstrual periods (females), Infertility. […] Girls who are born with ambiguous external genitalia may need surgery. […] Surgery for treatment of classic CAH should be done by an experienced surgeon who has expertise with this specific type of surgery.

• #13 Medication for Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/treatments/medication-for-congenital-adrenal-hyperplasia

  For babies and young children, our doctors prescribe a type of glucocorticoid medication called hydrocortisone, which is taken daily by mouth. Older children who are finished growing may need more potent, longer-acting corticosteroids such as prednisolone or dexamethasone, which are also taken by mouth. […] Children with classic congenital adrenal hyperplasia are also treated with a synthetic mineralocorticoid medication called fludrocortisone. This medication maintains normal salt levels. […] Doctors prescribe salt replacement medications in combination with fludrocortisone for infants with salt-wasting congenital adrenal hyperplasia. These medications are taken by mouth. After age three, a child is encouraged to eat salty foods to increase sodium in the diet.

• #14 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.

• #15 Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence – Journal of Clinical Research in Pediatric Endocrinology

  https://www.jcrpe.org/articles/treatment-and-follow-up-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-childhood-and-adolescence/doi/jcrpe.galenos.2024.2024-6-26-S

  Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. In the treatment of classical CAH, it is necessary to replace both glucocorticoid (GC) and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin. GC therapy is recommended in children with inappropriately early onset and rapidly progressing pubarche or accelerated bone age progression, and in adolescents with non-classical CAH (NCCAH) who have overt virilization. The aim of treatment with GC is to prevent adrenal crisis, prevent hyperandrogenemia, and ensure normal age-appropriate growth and puberty. A good knowledge of the pharmacokinetic and pharmacodynamic properties of GCs is important in evaluating the treatment of individual CAH patients. The first choice GC in growing children is hydrocortisone (HC), a synthetic form of cortisol. In children, it is recommended to divide the tablets and give them with water or food. Fludrocortisone should be given at 100-200 g/day in 1 or 2 doses. During adolescence, hormonal control is often difficult even if the maintenance dose is adequate and treatment compliance is good. Continuous GC and mineralocorticoid administration during the transition from adolescence to adulthood is necessary to prevent morbidity and mortality, especially from adrenal crises. In classical CAH treatment, it is necessary to replace both GC and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin, which triggers adrenal androgen release. In affected but stable cases in the neonatal period, HC is started at an average dose of 20-30 mg/m2/day. In childhood, instead of long-acting GCs, treatment should be continued at a maintenance dose with HC, which has the least negative effects and side effects on growth, and fludrocortisone should be added to the treatment regimen in those with mineralocorticoid deficiency. In patients with NCCAH, stress doses of HC are given for major surgery, trauma, or childbirth only if the patient has a suboptimal cortisol response to the ACTH test.

• #16 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.

• #17 dosing for congenital adrenal hyperplasia

  https://caresfoundation.org/treatment-dosing/

  Mineralocorticoid use. All classic CAH patients should be treated with fludrocortisone at diagnosis in the newborn period. Dosage requirements in early infancy range from 0.05-0.30 mg/d, whereas typical maintenance doses are 0.05-0.2 mg/d, depending on the sodium intake. Sodium chloride supplements are often needed in infancy at 1-3gm/d(17-51mEq/d), distributed in several feedings. […] We strongly recommend that all CAH affected individuals and all parents print out a copy of the Consensus Statement and refer to it often for guidance and answers to common questions.

• #18 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.

• #19 Medication for Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/treatments/medication-for-congenital-adrenal-hyperplasia

  For babies and young children, our doctors prescribe a type of glucocorticoid medication called hydrocortisone, which is taken daily by mouth. Older children who are finished growing may need more potent, longer-acting corticosteroids such as prednisolone or dexamethasone, which are also taken by mouth. […] Children with classic congenital adrenal hyperplasia are also treated with a synthetic mineralocorticoid medication called fludrocortisone. This medication maintains normal salt levels. […] Doctors prescribe salt replacement medications in combination with fludrocortisone for infants with salt-wasting congenital adrenal hyperplasia. These medications are taken by mouth. After age three, a child is encouraged to eat salty foods to increase sodium in the diet.

• #20 Congenital adrenal hyperplasia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/diagnosis-treatment/drc-20355211

  For children, a healthcare professional likely will make a referral to a specialist in childhood hormonal issues. This specialist is called a pediatric endocrinologist. For adults, a referral often is made to an adult endocrinologist. The treatment team also may include other healthcare professionals such as: […] Treatment may include medicines, surgery and mental health support. […] The goal of treating CAH with medicines is to lower the amount of androgens the body makes and replace hormones the body lacks. People with classic CAH can manage the condition by taking hormone replacement medicines throughout their lives. […] Medicines for CAH are taken every day. During illnesses or times of serious stress, other medicines or higher doses may be needed. […] Regular checkups are needed to make sure the medicines work well.

• #21 Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-adrenal-hyperplasia

  In the Congenital Adrenal Hyperplasia Program at CHOP, our team will work with your family to develop an individualized treatment plan to manage your childs disease. […] CAH requires lifelong treatment with cortisol. Your child will typically begin taking a synthetic cortisol or glucocorticoid (such as hydrocortisone, prednisone or dexamethasone) as a pill given by mouth every day. This pill replaces the cortisol your child cannot produce and also decreases the levels of androgens in the blood stream. […] If your child is unable to make aldosterone, her doctor may also prescribe an aldosterone replacement, which is also given as a pill once or twice a day. […] Some infant girls may require surgery of atypical external genitalia. In this situation, your child will be evaluated by our dedicated urology team with extensive experience in surgical management of children with CAH.

• #22 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  During adrenal crisis, an immediate bolus of hydrocortisone 50-100 mg can be given intravenously or intramuscularly followed by hydrocortisone 100 mg/m2/day given as either continuous infusion or divided at least every 6 hours. Rehydration can be started with 20ml/kg isotonic saline with D5 as rapid bolus followed by repeat boluses or continuous infusion guided by level of dehydration. Hypoglycemia may require dextrose bolus and an initial bolus of 0.5-1 gram/kg of dextrose can be given intravenously at 2-3 ml per minute. If hyperkalemia is present, cardiac monitoring should be done to monitor for EKG changes. If changes are present, hyperkalemia should be treated using insulin with glucose infusion with or without other measures. […] In non-life-threatening periods of illness or physiologic stress, the corticosteroid dose should be increased to 2 or 3 times the maintenance dose for the duration of that period, divided into 3 daily doses. Each family should be given injection kits of hydrocortisone, i.e. Solu-Cortef, for emergency use, and all family members should be trained in its intramuscular administration. The injectable dose of hydrocortisone in an emergency is 25 mg for infants, 50 mg for children under 40 kg, and 100 mg for children over 40 kg and for adults. In the event of a surgical procedure, 5-10 times the daily maintenance dose of hydrocortisone is needed, with 25-100 mg hydrocortisone IM/IV administered before and during a surgical procedure (as per infant, child, adult recommendations above), followed by high doses of hydrocortisone during the first 24-48 post-operative hours; the dose can then be tapered over the following days to the normal preoperative schedule. Stress doses of dexamethasone should not be given because of the delayed onset of action. It is not necessary for increased mineralocorticoid doses during these periods of stress. It is imperative for all patients who are receiving corticosteroid replacement therapy, such as patients with CAH, to wear a Medical Alert bracelet or medallion that will enable correct and appropriate therapy in case of emergencies. It is also crucial to re-educate parents at regular intervals on the life-threatening nature of this emergency.

• #23 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  During adrenal crisis, an immediate bolus of hydrocortisone 50-100 mg can be given intravenously or intramuscularly followed by hydrocortisone 100 mg/m2/day given as either continuous infusion or divided at least every 6 hours. Rehydration can be started with 20ml/kg isotonic saline with D5 as rapid bolus followed by repeat boluses or continuous infusion guided by level of dehydration. Hypoglycemia may require dextrose bolus and an initial bolus of 0.5-1 gram/kg of dextrose can be given intravenously at 2-3 ml per minute. If hyperkalemia is present, cardiac monitoring should be done to monitor for EKG changes. If changes are present, hyperkalemia should be treated using insulin with glucose infusion with or without other measures. […] In non-life-threatening periods of illness or physiologic stress, the corticosteroid dose should be increased to 2 or 3 times the maintenance dose for the duration of that period, divided into 3 daily doses. Each family should be given injection kits of hydrocortisone, i.e. Solu-Cortef, for emergency use, and all family members should be trained in its intramuscular administration. The injectable dose of hydrocortisone in an emergency is 25 mg for infants, 50 mg for children under 40 kg, and 100 mg for children over 40 kg and for adults. In the event of a surgical procedure, 5-10 times the daily maintenance dose of hydrocortisone is needed, with 25-100 mg hydrocortisone IM/IV administered before and during a surgical procedure (as per infant, child, adult recommendations above), followed by high doses of hydrocortisone during the first 24-48 post-operative hours; the dose can then be tapered over the following days to the normal preoperative schedule. Stress doses of dexamethasone should not be given because of the delayed onset of action. It is not necessary for increased mineralocorticoid doses during these periods of stress. It is imperative for all patients who are receiving corticosteroid replacement therapy, such as patients with CAH, to wear a Medical Alert bracelet or medallion that will enable correct and appropriate therapy in case of emergencies. It is also crucial to re-educate parents at regular intervals on the life-threatening nature of this emergency.

• #24 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  During adrenal crisis, an immediate bolus of hydrocortisone 50-100 mg can be given intravenously or intramuscularly followed by hydrocortisone 100 mg/m2/day given as either continuous infusion or divided at least every 6 hours. Rehydration can be started with 20ml/kg isotonic saline with D5 as rapid bolus followed by repeat boluses or continuous infusion guided by level of dehydration. Hypoglycemia may require dextrose bolus and an initial bolus of 0.5-1 gram/kg of dextrose can be given intravenously at 2-3 ml per minute. If hyperkalemia is present, cardiac monitoring should be done to monitor for EKG changes. If changes are present, hyperkalemia should be treated using insulin with glucose infusion with or without other measures. […] In non-life-threatening periods of illness or physiologic stress, the corticosteroid dose should be increased to 2 or 3 times the maintenance dose for the duration of that period, divided into 3 daily doses. Each family should be given injection kits of hydrocortisone, i.e. Solu-Cortef, for emergency use, and all family members should be trained in its intramuscular administration. The injectable dose of hydrocortisone in an emergency is 25 mg for infants, 50 mg for children under 40 kg, and 100 mg for children over 40 kg and for adults. In the event of a surgical procedure, 5-10 times the daily maintenance dose of hydrocortisone is needed, with 25-100 mg hydrocortisone IM/IV administered before and during a surgical procedure (as per infant, child, adult recommendations above), followed by high doses of hydrocortisone during the first 24-48 post-operative hours; the dose can then be tapered over the following days to the normal preoperative schedule. Stress doses of dexamethasone should not be given because of the delayed onset of action. It is not necessary for increased mineralocorticoid doses during these periods of stress. It is imperative for all patients who are receiving corticosteroid replacement therapy, such as patients with CAH, to wear a Medical Alert bracelet or medallion that will enable correct and appropriate therapy in case of emergencies. It is also crucial to re-educate parents at regular intervals on the life-threatening nature of this emergency.

• #25 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  During adrenal crisis, an immediate bolus of hydrocortisone 50-100 mg can be given intravenously or intramuscularly followed by hydrocortisone 100 mg/m2/day given as either continuous infusion or divided at least every 6 hours. Rehydration can be started with 20ml/kg isotonic saline with D5 as rapid bolus followed by repeat boluses or continuous infusion guided by level of dehydration. Hypoglycemia may require dextrose bolus and an initial bolus of 0.5-1 gram/kg of dextrose can be given intravenously at 2-3 ml per minute. If hyperkalemia is present, cardiac monitoring should be done to monitor for EKG changes. If changes are present, hyperkalemia should be treated using insulin with glucose infusion with or without other measures. […] In non-life-threatening periods of illness or physiologic stress, the corticosteroid dose should be increased to 2 or 3 times the maintenance dose for the duration of that period, divided into 3 daily doses. Each family should be given injection kits of hydrocortisone, i.e. Solu-Cortef, for emergency use, and all family members should be trained in its intramuscular administration. The injectable dose of hydrocortisone in an emergency is 25 mg for infants, 50 mg for children under 40 kg, and 100 mg for children over 40 kg and for adults. In the event of a surgical procedure, 5-10 times the daily maintenance dose of hydrocortisone is needed, with 25-100 mg hydrocortisone IM/IV administered before and during a surgical procedure (as per infant, child, adult recommendations above), followed by high doses of hydrocortisone during the first 24-48 post-operative hours; the dose can then be tapered over the following days to the normal preoperative schedule. Stress doses of dexamethasone should not be given because of the delayed onset of action. It is not necessary for increased mineralocorticoid doses during these periods of stress. It is imperative for all patients who are receiving corticosteroid replacement therapy, such as patients with CAH, to wear a Medical Alert bracelet or medallion that will enable correct and appropriate therapy in case of emergencies. It is also crucial to re-educate parents at regular intervals on the life-threatening nature of this emergency.

• #26 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  During adrenal crisis, an immediate bolus of hydrocortisone 50-100 mg can be given intravenously or intramuscularly followed by hydrocortisone 100 mg/m2/day given as either continuous infusion or divided at least every 6 hours. Rehydration can be started with 20ml/kg isotonic saline with D5 as rapid bolus followed by repeat boluses or continuous infusion guided by level of dehydration. Hypoglycemia may require dextrose bolus and an initial bolus of 0.5-1 gram/kg of dextrose can be given intravenously at 2-3 ml per minute. If hyperkalemia is present, cardiac monitoring should be done to monitor for EKG changes. If changes are present, hyperkalemia should be treated using insulin with glucose infusion with or without other measures. […] In non-life-threatening periods of illness or physiologic stress, the corticosteroid dose should be increased to 2 or 3 times the maintenance dose for the duration of that period, divided into 3 daily doses. Each family should be given injection kits of hydrocortisone, i.e. Solu-Cortef, for emergency use, and all family members should be trained in its intramuscular administration. The injectable dose of hydrocortisone in an emergency is 25 mg for infants, 50 mg for children under 40 kg, and 100 mg for children over 40 kg and for adults. In the event of a surgical procedure, 5-10 times the daily maintenance dose of hydrocortisone is needed, with 25-100 mg hydrocortisone IM/IV administered before and during a surgical procedure (as per infant, child, adult recommendations above), followed by high doses of hydrocortisone during the first 24-48 post-operative hours; the dose can then be tapered over the following days to the normal preoperative schedule. Stress doses of dexamethasone should not be given because of the delayed onset of action. It is not necessary for increased mineralocorticoid doses during these periods of stress. It is imperative for all patients who are receiving corticosteroid replacement therapy, such as patients with CAH, to wear a Medical Alert bracelet or medallion that will enable correct and appropriate therapy in case of emergencies. It is also crucial to re-educate parents at regular intervals on the life-threatening nature of this emergency.

• #27 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  During adrenal crisis, an immediate bolus of hydrocortisone 50-100 mg can be given intravenously or intramuscularly followed by hydrocortisone 100 mg/m2/day given as either continuous infusion or divided at least every 6 hours. Rehydration can be started with 20ml/kg isotonic saline with D5 as rapid bolus followed by repeat boluses or continuous infusion guided by level of dehydration. Hypoglycemia may require dextrose bolus and an initial bolus of 0.5-1 gram/kg of dextrose can be given intravenously at 2-3 ml per minute. If hyperkalemia is present, cardiac monitoring should be done to monitor for EKG changes. If changes are present, hyperkalemia should be treated using insulin with glucose infusion with or without other measures. […] In non-life-threatening periods of illness or physiologic stress, the corticosteroid dose should be increased to 2 or 3 times the maintenance dose for the duration of that period, divided into 3 daily doses. Each family should be given injection kits of hydrocortisone, i.e. Solu-Cortef, for emergency use, and all family members should be trained in its intramuscular administration. The injectable dose of hydrocortisone in an emergency is 25 mg for infants, 50 mg for children under 40 kg, and 100 mg for children over 40 kg and for adults. In the event of a surgical procedure, 5-10 times the daily maintenance dose of hydrocortisone is needed, with 25-100 mg hydrocortisone IM/IV administered before and during a surgical procedure (as per infant, child, adult recommendations above), followed by high doses of hydrocortisone during the first 24-48 post-operative hours; the dose can then be tapered over the following days to the normal preoperative schedule. Stress doses of dexamethasone should not be given because of the delayed onset of action. It is not necessary for increased mineralocorticoid doses during these periods of stress. It is imperative for all patients who are receiving corticosteroid replacement therapy, such as patients with CAH, to wear a Medical Alert bracelet or medallion that will enable correct and appropriate therapy in case of emergencies. It is also crucial to re-educate parents at regular intervals on the life-threatening nature of this emergency.

• #28 Congenital adrenal hyperplasia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/diagnosis-treatment/drc-20355211

  For children, a healthcare professional likely will make a referral to a specialist in childhood hormonal issues. This specialist is called a pediatric endocrinologist. For adults, a referral often is made to an adult endocrinologist. The treatment team also may include other healthcare professionals such as: […] Treatment may include medicines, surgery and mental health support. […] The goal of treating CAH with medicines is to lower the amount of androgens the body makes and replace hormones the body lacks. People with classic CAH can manage the condition by taking hormone replacement medicines throughout their lives. […] Medicines for CAH are taken every day. During illnesses or times of serious stress, other medicines or higher doses may be needed. […] Regular checkups are needed to make sure the medicines work well.

• #29 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.

• #30 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.

• #31 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.

• #32 Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia

  Treatment includes various steroids to replace the hormones your body cant make. […] Treatment for CAH depends on the type and how severe your symptoms are. There isnt a cure for CAH, but you may find symptom relief with medications and other treatments. […] Your healthcare provider will monitor your condition. Theyll order regular blood tests to check your hormone levels. The goal of treatment is to ensure normal growth and sexual development. […] Your provider may prescribe several medications to treat your symptoms. These medications include: Salt supplements: Your newborn may need salt (sodium chloride) supplements. Glucocorticoids: Glucocorticoids replace the cortisol your body doesnt make on its own. You may need extra glucocorticoids during times of stress or illness. Mineralocorticoids: Mineralocorticoids replace the aldosterone your body doesnt make on its own.

• #33 Treatment and health outcomes in adults with congenital adrenal hyperplasia | Nature Reviews Endocrinology

  https://www.nature.com/articles/nrendo.2013.239

  The health status in adults with congenital adrenal hyperplasia (CAH) is impaired, with an increased incidence of obesity, hypertension, osteoporosis and reduced quality of life and fertility […] The poor health status of adults with CAH seems to be a result of their treatment; therefore, patient care needs to be improved and hormone replacement therapy optimized […] Potent synthetic and long-acting glucocorticoids should only be used in patients with a clinical indication, and the dose should be maintained at the lowest level for the shortest time possible […] Increasing the dose of glucocorticoids does not necessarily result in improved disease control, but will probably have adverse health consequences […] Hypertension is common, so mineralocorticoid replacement therapy should avoid suppressing plasma levels of renin below the normal range, and blood pressure should be monitored regularly in adults with CAH

• #34 Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence – Journal of Clinical Research in Pediatric Endocrinology

  https://jcrpe.org/articles/treatment-and-follow-up-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-childhood-and-adolescence/doi/jcrpe.galenos.2024.2024-6-26-S

  Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. In the treatment of classical CAH, it is necessary to replace both glucocorticoid (GC) and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin. GC therapy is recommended in children with inappropriately early onset and rapidly progressing pubarche or accelerated bone age progression, and in adolescents with non-classical CAH (NCCAH) who have overt virilization. The aim of treatment with GC is to prevent adrenal crisis, prevent hyperandrogenemia, and ensure normal age-appropriate growth and puberty. A good knowledge of the pharmacokinetic and pharmacodynamic properties of GCs is important in evaluating the treatment of individual CAH patients. The first choice GC in growing children is hydrocortisone (HC), a synthetic form of cortisol. In children, it is recommended to divide the tablets and give them with water or food. Fludrocortisone is started in all newborns with classical CAH detected in neonatal screening programs before hyponatremia develops. Children younger than 18 months should be monitored at least every three months, and older children should be monitored every 4 to 6 months or more frequently after a dose change. During adolescence, hormonal control is often difficult even if the maintenance dose is adequate and treatment compliance is good. Continuous GC and mineralocorticoid administration during the transition from adolescence to adulthood is necessary to prevent morbidity and mortality, especially from adrenal crises. In classical CAH treatment, it is necessary to replace both GC and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin, which triggers adrenal androgen release. GC therapy is recommended in children with inappropriately early onset and rapidly progressive pubarche or accelerated bone age progression, and in adolescents with NCCAH who have overt virilization. Treatment goals for classical CAH include both hormonal replacement and reducing adrenal androgen production. Adjuvant treatments for the control of hyperandrogenism in CAH are under investigation. Unilateral or bilateral adrenalectomy has been suggested as an approach in the long-term treatment of classical CAH to limit adrenal androgens. However, current data do not recommend the medical adrenalectomy approach. In patients with NCCAH, in whom treatment has already been initiated, discontinuation of GC therapy should be planned once they have reached final adult height or other symptoms have resolved.

• #35 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.

• #36 Congenital adrenal hyperplasia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/diagnosis-treatment/drc-20355211

  With classic CAH, it’s a good idea to wear a medical identification bracelet or necklace that says you have congenital adrenal hyperplasia. It can help a healthcare team provide the right treatment in case of an emergency. […] The healthcare team may suggest reconstructive surgery as part of treatment. Surgery can help the genitals function better and look more typical. […] Mental health support is key for children and adults with CAH. It can help with the social and emotional parts of the condition. […] Treatment of CAH during pregnancy with lab-made corticosteroids that cross the placenta to the fetus are controversial and considered experimental. More research is needed to determine the long-term safety and the effect of this treatment on a baby’s brain.

• #37 Congenital Adrenal Hyperplasia | Causes, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/congenital-adrenal-hyperplasia

  Treatment for people with CAH is life-long. It requires daily hormone replacement (medications). […] Oral hydrocortisone (Cortef) replaces cortisol. […] Oral fludrocortisone (Florinef) replaces aldosterone. It treats salt-wasting CAH. […] Hormone replacement helps decrease androgen levels. […] Parents may ask for surgery. Our approach to surgery is individualized. Our team talks with parents about all of the options and helps them make decisions. Families should take time to consider the options carefully. […] All children with CAH have routine office visits with an endocrinologist. Endocrinologists are doctors who treat patients with hormone conditions. These doctors check their patients growth and hormone levels. Endocrinologists prescribe the medicines that replace the missing hormones to treat CAH.

• #38 New Clinical Developments in Congenital Adrenal Hyperplasia Treatment

  https://www.delveinsight.com/blog/congenital-adrenal-hyperplasia-treatment-landscape

  Individuals with the salt-wasting variant of 21-OHD CAH require congenital adrenal hyperplasia treatment with 9-fludrohydrocortisone (Florinef) (0.05-0.2 mg/day orally) and sodium chloride (1-2 g/day added to formula or foods). In the infant and early infancy, all people with the classic type should be treated with both 9-fludrohydrocortisone and salt chloride supplementation. […] Surgery should only be considered in situations of severe virilization (Prader III-V) and should be undertaken in combination with the repair of the common urogenital sinus when suitable. […] The response of testicular adrenal rest tumors to increased glucocorticoid therapy may reduce tumor growth and enhance testicular function. […] Individuals with severe 21-OHD CAH who are homozygous for a null variation and have a history of poor management with hormone replacement therapy have been treated with bilateral adrenalectomy.

• #39 Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/endocrine-disorders-in-children/congenital-adrenal-hyperplasia-caused-by-21-hydroxylase-deficiency

  Treatment is with a glucocorticoid plus, if needed, a mineralocorticoid and, for some female neonates with genital ambiguity, surgical reconstruction. […] Maintenance treatment of classic 21-hydroxylase deficiency is corticosteroids as replacement for deficient steroids (typically, a tablet form of oral hydrocortisone 3 times a day). […] For the salt-wasting form, in addition to corticosteroids, maintenance treatment includes mineralocorticoid replacement for restoration of sodium and potassium homeostasis. Oral fludrocortisone is given if salt loss occurs. […] Affected female infants may require surgical reconstruction with reduction clitoroplasty and construction of a vaginal opening. […] For prenatal treatment, a corticosteroid (usually dexamethasone) is given to the mother to suppress fetal pituitary secretion of ACTH and thus reduce or prevent masculinization of affected female fetuses. […] Treatment of nonclassic 21-hydroxylase deficiency depends on symptoms. If asymptomatic, no treatment is required. If symptomatic, corticosteroid treatment is similar to classic 21-hydroxylase deficiency, but lower doses are often effective. Mineralocorticoid replacement is not needed.

• #40 Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia

  If you have classic CAH, youll need to take these medications daily for life. If you stop taking the medications, your symptoms will return. […] Another treatment option includes surgery for ambiguous genitalia. Surgery two to six months after birth can correct the appearance and function of your babys genitals. In some cases, it may be appropriate to delay surgery for several years. […] If you dont have any symptoms, you may not need treatment. If you have mild symptoms, you may need a low dose of glucocorticoids. You usually wont need lifelong treatment. […] If you or your child has CAH, its important to seek mental healthcare to address any concerns. Mental healthcare is an important part of CAH treatment and can lead to an improved quality of life.

• #41 Congenital Adrenal Hyperplasia | Endocrine Society

  https://www.endocrine.org/patient-engagement/endocrine-library/congenital-adrenal-hyperplasia

  The goals of treatment are to ensure proper hormone levels and promote normal growth, sexual development, and sexual function. Patients with classic CAH should have a team of health care providers, including specialists in pediatric endocrinology, pediatric urologic surgery, mental health, and genetics. Individuals with classic CAH are treated with medications called glucocorticoids to replace the cortisol their bodies can’t make. Extra glucocorticoids may be needed during times of stress, such as when a patient is sick with an infection. Individuals with classic CAH, especially those with the salt-wasting form, also need medicines called mineralocorticoids to replace the aldosterone they cant make. Newborns also may need sodium chloride (salt) supplements. Surgery can correct ambiguous genitalia in girls. Parents may choose to delay surgery until the child is old enough to help make the decision. Thus, genital reconstructive surgery should incorporate the shared decisions and values of parents, patients, surgeons, endocrinologists, mental health providers, and support groups. It is important that children with CAH and their caregivers seek mental health treatment to address any CAH-related psychosocial concerns. An important goal of CAH therapy is to improve mental health monitoring and quality of life.

• #42 What are the treatments for congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/treatments

  Treatments for CAH include medication and surgery as well as psychological support. […] Classic CAH is treated with steroids that replace the low hormones. […] Infants and children usually take a form of cortisol called hydrocortisone. […] Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol. […] Patients with classic CAH also take another medicine, fludrocortisone, to replace aldosterone. […] People who have classic CAH need to wear a medical alert identification bracelet or necklace. […] Patients with classic CAH need to take medication daily for their entire lives. […] Symptoms of nonclassic CAH that signal that the patient may need treatment are: Early puberty, Excess body hair, Irregular menstrual periods (females), Infertility. […] Girls who are born with ambiguous external genitalia may need surgery. […] Surgery for treatment of classic CAH should be done by an experienced surgeon who has expertise with this specific type of surgery.

• #43 Management challenges and therapeutic advances in congenital adrenal hyperplasia | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-022-00655-w

  Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s following the discovery of the structure and function of adrenocortical hormones. […] Management is complicated by a combination of comorbidities that arise from disease-related hormonal derangements and treatment-related adverse effects. […] Standard-of-care glucocorticoid formulations fall short of replicating the circadian rhythm of cortisol and controlling efficient adrenocorticotrophic hormone-driven adrenal androgen production. […] Multiple alternative treatment approaches are being developed with the aim of tailoring therapy for improved patient outcomes. […] Furthermore, we examine new therapeutic developments, including treatments designed to replace cortisol in a physiological manner and adjunct agents intended to control excess androgens and thereby enable reductions in glucocorticoid doses.

• #44 Management challenges and therapeutic advances in congenital adrenal hyperplasia | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-022-00655-w

  Challenges in the management of congenital adrenal hyperplasia (CAH) arise from multiple hormonal imbalances, the intrinsic tendency of the CAH-affected adrenal gland to overproduce androgens and limited treatment options, which often necessitate glucocorticoid excess. […] Circadian glucocorticoid replacement and adjunct non-glucocorticoid therapies promise to enable glucocorticoid dose reduction; furthermore, the development of personalized gene and cellular therapies is under way. […] Traditional biomarkers vary with glucocorticoid dose or time of day and are not adrenal-specific, reflecting the need for new biomarkers; for example, the biologically active 11-oxygenated androgens, which are elevated in CAH.

• #45 FDA Approves New Treatment for Congenital Adrenal Hyperplasia | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-new-treatment-congenital-adrenal-hyperplasia

  Today, the U.S. Food and Drug Administration approved Crenessity (crinecerfont) to be used together with glucocorticoids (steroids) to control androgen (a testosterone-like hormone) levels in adults and pediatric patients 4 years of age and older with classic congenital adrenal hyperplasia (CAH). […] Crenessity works by reducing excessive adrenal androgen production, which helps reduce the amount of glucocorticoid treatment needed. […] The group that received Crenessity reduced their daily glucocorticoid dose by 27% while maintaining control of androstenedione levels, compared to a 10% daily glucocorticoid dose reduction in the group that received placebo. […] The group that received Crenessity experienced a statistically significant reduction from baseline in serum androstenedione, compared to an average increase from baseline in the placebo group. […] At the end of the trial, patients assigned to Crenessity were able to reduce their daily glucocorticoid dose by 18% while maintaining control of androstenedione levels compared to an almost 6% daily glucocorticoid dose increase in patients assigned to placebo.

• #46 Congenital Adrenal Hyperplasia Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/919218-treatment

  In December 2024, the US Food and Drug Administration (FDA) approved crinecerfont (Crenessity), a corticotropin-releasing factor type 1 receptor antagonist, to be used in combination with glucocorticoid replacement in adults and children aged 4 years or older, for androgen control in classic congenital adrenal hyperplasia. […] Another approach that has been investigated is the combined use of glucocorticoid (to suppress ACTH and adrenal androgen production), mineralocorticoid (to reduce angiotensin II concentrations), aromatase inhibitor (to slow skeletal maturation), and flutamide (an androgen blocker to reduce virilization). […] The Endocrine Society’s 2018 clinical practice guidelines include the following: The addition of fludrocortisone and sodium supplementation to the treatment regimen is recommended for newborns and patients in early infancy.

• #47 Crinecerfont for Classic Adrenal Hyperplasia

  https://www.webmd.com/children/features/new-treatment-for-classic-congenital-adrenal-hyperplasia-expert-insights-key-facts

  Classic congenital adrenal hyperplasia (CAH) is a rare genetic condition that disrupts hormone balance. […] For decades, treatment has been the same: steroids like hydrocortisone in high doses. But in December 2024, the FDA approved crinecerfont (Crenessity) the first new drug for classic CAH in 70 years and the only one made specifically for the condition. […] Crinecerfont is approved for people ages 4 and up with classic CAH. Its designed to lower levels of androgens, which may reduce the need for high doses of glucocorticoids. […] The drug isnt a replacement for steroids. Its meant to help keep hormone levels in balance while potentially reducing steroid-related side effects. […] Crinecerfont works in a totally different way. Instead of replacing hormones, it blocks a receptor in the brain that triggers excess ACTH production. By turning down this overactive system, the body makes fewer androgens. As a result, you may need lower steroid doses to balance your hormones.

• #48 FDA Approves New Treatment for Congenital Adrenal Hyperplasia | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-new-treatment-congenital-adrenal-hyperplasia

  Today, the U.S. Food and Drug Administration approved Crenessity (crinecerfont) to be used together with glucocorticoids (steroids) to control androgen (a testosterone-like hormone) levels in adults and pediatric patients 4 years of age and older with classic congenital adrenal hyperplasia (CAH). […] Crenessity works by reducing excessive adrenal androgen production, which helps reduce the amount of glucocorticoid treatment needed. […] The group that received Crenessity reduced their daily glucocorticoid dose by 27% while maintaining control of androstenedione levels, compared to a 10% daily glucocorticoid dose reduction in the group that received placebo. […] The group that received Crenessity experienced a statistically significant reduction from baseline in serum androstenedione, compared to an average increase from baseline in the placebo group. […] At the end of the trial, patients assigned to Crenessity were able to reduce their daily glucocorticoid dose by 18% while maintaining control of androstenedione levels compared to an almost 6% daily glucocorticoid dose increase in patients assigned to placebo.

• #49 Crinecerfont for Classic Adrenal Hyperplasia

  https://www.webmd.com/children/features/new-treatment-for-classic-congenital-adrenal-hyperplasia-expert-insights-key-facts

  Classic congenital adrenal hyperplasia (CAH) is a rare genetic condition that disrupts hormone balance. […] For decades, treatment has been the same: steroids like hydrocortisone in high doses. But in December 2024, the FDA approved crinecerfont (Crenessity) the first new drug for classic CAH in 70 years and the only one made specifically for the condition. […] Crinecerfont is approved for people ages 4 and up with classic CAH. Its designed to lower levels of androgens, which may reduce the need for high doses of glucocorticoids. […] The drug isnt a replacement for steroids. Its meant to help keep hormone levels in balance while potentially reducing steroid-related side effects. […] Crinecerfont works in a totally different way. Instead of replacing hormones, it blocks a receptor in the brain that triggers excess ACTH production. By turning down this overactive system, the body makes fewer androgens. As a result, you may need lower steroid doses to balance your hormones.

• #50 FDA Approves New Treatment for Congenital Adrenal Hyperplasia | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-new-treatment-congenital-adrenal-hyperplasia

  Today, the U.S. Food and Drug Administration approved Crenessity (crinecerfont) to be used together with glucocorticoids (steroids) to control androgen (a testosterone-like hormone) levels in adults and pediatric patients 4 years of age and older with classic congenital adrenal hyperplasia (CAH). […] Crenessity works by reducing excessive adrenal androgen production, which helps reduce the amount of glucocorticoid treatment needed. […] The group that received Crenessity reduced their daily glucocorticoid dose by 27% while maintaining control of androstenedione levels, compared to a 10% daily glucocorticoid dose reduction in the group that received placebo. […] The group that received Crenessity experienced a statistically significant reduction from baseline in serum androstenedione, compared to an average increase from baseline in the placebo group. […] At the end of the trial, patients assigned to Crenessity were able to reduce their daily glucocorticoid dose by 18% while maintaining control of androstenedione levels compared to an almost 6% daily glucocorticoid dose increase in patients assigned to placebo.

• #51 Crinecerfont for Classic Adrenal Hyperplasia

  https://www.webmd.com/children/features/new-treatment-for-classic-congenital-adrenal-hyperplasia-expert-insights-key-facts

  Its not a cure, but it could reduce steroid-related side effects and improve quality of life. […] In clinical trials, people saw improvement within four weeks. Their hormone levels dropped to a healthier range in that time, showing that the drug was doing what it was supposed to. It also helped people lower their steroid doses, which is a major goal of treatment. […] Like I said earlier, this drug may be especially helpful during times when hormone management is more difficult, like puberty. Some adults with CAH-related infertility may also benefit, though its effects during pregnancy havent been studied yet. […] Keep in mind that crinecerfont isnt a replacement for steroids. Its an add-on treatment designed to lower androgen levels and reduce the need for high steroid doses, which may lessen side effects. […] But based on the clinical trials, crinecerfont is a promising new option for people with CAH. For many, it could mean better hormone balance, fewer steroid-related side effects, and improved quality of life.

• #52 Gene Therapy for Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/centers-programs/congenital-adrenal-hyperplasia-program/gene-therapy-congenital-adrenal-hyperplasia

  Gene therapy for classic CAH uses a viral vector to deliver functional copies of the CYP21A2 gene, so the adrenal glands can properly make 21-hydroxylase. This restores the ability to make cortisol and aldosterone. The gene therapy is delivered in one intravenous (IV) dose. […] The ultimate goal of the gene therapy is to restore the adrenal glands normal function: responding to the bodys natural signals by releasing the right amount of hormones to react to stress, illness and daily living without additional medication. […] Currently, individuals with CAH must take daily medication to replace missing hormones and take stress doses if they are ill or injured to prevent life-threatening events called adrenal crises. Lifelong treatment is required. […] Each child receives an individualized care plan, and parents and caregivers are trained in how to administer daily medications, watch for symptoms of an adrenal crisis and treat any crises.

• #53 Gene Therapy for Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/centers-programs/congenital-adrenal-hyperplasia-program/gene-therapy-congenital-adrenal-hyperplasia

  Gene therapy for classic CAH uses a viral vector to deliver functional copies of the CYP21A2 gene, so the adrenal glands can properly make 21-hydroxylase. This restores the ability to make cortisol and aldosterone. The gene therapy is delivered in one intravenous (IV) dose. […] The ultimate goal of the gene therapy is to restore the adrenal glands normal function: responding to the bodys natural signals by releasing the right amount of hormones to react to stress, illness and daily living without additional medication. […] Currently, individuals with CAH must take daily medication to replace missing hormones and take stress doses if they are ill or injured to prevent life-threatening events called adrenal crises. Lifelong treatment is required. […] Each child receives an individualized care plan, and parents and caregivers are trained in how to administer daily medications, watch for symptoms of an adrenal crisis and treat any crises.

• #54 Emerging Therapies in Management of Congenital Adrenal Hyperplasia

  https://www.patientcareonline.com/view/emerging-therapies-in-management-of-congenital-adrenal-hyperplasia

  Novel ways to replace GCs include a range of intermediate- and long-acting glucocorticoid formulations as well as newer modified-release versions of hydrocortisone, all mechanisms focused on overcoming the challenge to mimic the circadian rhythm of cortisol production. […] Another modified-release hydrocortisone formulation appears more promising for treatment of 21OH deficient CAH as it is designed to address the morning surge of ACTH and adrenal androgens. […] Another avenue with potential to provide GC replacement more closely resembling the circadian rhythm is continuous subcutaneous hydrocortisone infusion via programmable pump. […] There are also treatment strategies in development that block the HPA axis, directly addressing ACTH-driven androgen excess and separating control of that process from GC treatment of cortisol deficiency.

• #55 Emerging Therapies in Management of Congenital Adrenal Hyperplasia

  https://www.patientcareonline.com/view/emerging-therapies-in-management-of-congenital-adrenal-hyperplasia

  Novel ways to replace GCs include a range of intermediate- and long-acting glucocorticoid formulations as well as newer modified-release versions of hydrocortisone, all mechanisms focused on overcoming the challenge to mimic the circadian rhythm of cortisol production. […] Another modified-release hydrocortisone formulation appears more promising for treatment of 21OH deficient CAH as it is designed to address the morning surge of ACTH and adrenal androgens. […] Another avenue with potential to provide GC replacement more closely resembling the circadian rhythm is continuous subcutaneous hydrocortisone infusion via programmable pump. […] There are also treatment strategies in development that block the HPA axis, directly addressing ACTH-driven androgen excess and separating control of that process from GC treatment of cortisol deficiency.

• #56

  https://link.springer.com/article/10.1007/s11154-022-09717-w

  Continuous intravenous or subcutaneous HC infusion via a programmable pump more closely replicates the normal circadian rhythm of cortisol compared to conventional therapy in patients with adrenal insufficiency. […] Novel non-glucocorticoid treatment approaches to block the HPA-axis have emerged as ACTH is the major stimulation of the adrenal cortex. […] Gene-based therapy anticipates restoring the HPA-axis regulated glucocorticoid and mineralocorticoid production by replacement of the functional CYP21A2 gene with consequently 21-hydroxylase production.

• #57

  https://journals.lww.com/co-endocrinology/fulltext/2022/06000/emerging_treatment_for_congenital_adrenal.6.aspx

  Although the basic treatment of congenital adrenal hyperplasia (CAH) is well established, there are active clinical research projects to more closely mimic the normal diurnal rhythm of cortisol secretion and to reduce total glucocorticoid doses to minimize adverse metabolic effects. […] We review clinical studies on CAH treatment published in the last 18 months or currently underway according to ClinicalTrials.gov listings. These can be grouped into several broad themes: alternative dosing forms of hydrocortisone with altered pharmacokinetics or easier dose titration; corticotropin-releasing hormone receptor antagonists that reduce corticotropin (ACTH) secretion and thereby reduce adrenal androgen secretion; androgen biosynthesis inhibitors; a first clinical trial of a gene therapy vector.

• #58 Congenital adrenal hyperplasia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000411.htm

  The goal of treatment is to return hormone levels to normal, or near normal. Treatment may include taking: […] Hydrocortisone to replace cortisol […] Fludrocortisone to replace aldosterone […] Salt supplements. […] Medicine should be taken daily. People may need additional doses of medicine during times of stress, such as severe illness or surgery. Lifelong monitoring is needed to ensure that proper hormone levels are maintained. […] Steroids (such as hydrocortisone and fludrocortisone) used to treat CAH do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the body cannot make. […] Steroids cannot be stopped suddenly because doing so may lead to adrenal crisis. […] People with nonclassic CAH may not need medicine or just need low doses of medicine.

• #59 Congenital Adrenal Hyperplasia: Causes and Treatment

  https://patient.info/hormones/congenital-adrenal-hyperplasia-leaflet

  Some people get a mild condition that produces no symptoms. Others (mainly baby boys) develop a severe form that can be life-threatening. Medical treatment to correct hormone levels is available. Surgery to improve the appearance of unusual genitalia (in girls) is sometimes considered. […] Treatment may include: […] Glucocorticoids: these are steroid medicines that are similar to cortisol. […] Mineralocorticoids: these are a type of steroid similar to aldosterone. […] Babies with salt-losing CAH may need extra salt (sodium chloride) for the first six months of life. […] In some cases your specialist will recommend other hormonal treatment. This might include medications such as: somatropin, leuprorelin and histrelin. […] Treatment is not necessary unless you have symptoms, in which case a glucocorticoid steroid is used.

• #60 What are the treatments for congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/treatments

  Treatments for CAH include medication and surgery as well as psychological support. […] Classic CAH is treated with steroids that replace the low hormones. […] Infants and children usually take a form of cortisol called hydrocortisone. […] Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol. […] Patients with classic CAH also take another medicine, fludrocortisone, to replace aldosterone. […] People who have classic CAH need to wear a medical alert identification bracelet or necklace. […] Patients with classic CAH need to take medication daily for their entire lives. […] Symptoms of nonclassic CAH that signal that the patient may need treatment are: Early puberty, Excess body hair, Irregular menstrual periods (females), Infertility. […] Girls who are born with ambiguous external genitalia may need surgery. […] Surgery for treatment of classic CAH should be done by an experienced surgeon who has expertise with this specific type of surgery.

• #61 What are the treatments for congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/treatments

  Treatments for CAH include medication and surgery as well as psychological support. […] Classic CAH is treated with steroids that replace the low hormones. […] Infants and children usually take a form of cortisol called hydrocortisone. […] Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol. […] Patients with classic CAH also take another medicine, fludrocortisone, to replace aldosterone. […] People who have classic CAH need to wear a medical alert identification bracelet or necklace. […] Patients with classic CAH need to take medication daily for their entire lives. […] Symptoms of nonclassic CAH that signal that the patient may need treatment are: Early puberty, Excess body hair, Irregular menstrual periods (females), Infertility. […] Girls who are born with ambiguous external genitalia may need surgery. […] Surgery for treatment of classic CAH should be done by an experienced surgeon who has expertise with this specific type of surgery.

• #62 What are the treatments for congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/treatments

  Treatments for CAH include medication and surgery as well as psychological support. […] Classic CAH is treated with steroids that replace the low hormones. […] Infants and children usually take a form of cortisol called hydrocortisone. […] Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol. […] Patients with classic CAH also take another medicine, fludrocortisone, to replace aldosterone. […] People who have classic CAH need to wear a medical alert identification bracelet or necklace. […] Patients with classic CAH need to take medication daily for their entire lives. […] Symptoms of nonclassic CAH that signal that the patient may need treatment are: Early puberty, Excess body hair, Irregular menstrual periods (females), Infertility. […] Girls who are born with ambiguous external genitalia may need surgery. […] Surgery for treatment of classic CAH should be done by an experienced surgeon who has expertise with this specific type of surgery.

• #63 What are the treatments for congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/treatments

  Treatments for CAH include medication and surgery as well as psychological support. […] Classic CAH is treated with steroids that replace the low hormones. […] Infants and children usually take a form of cortisol called hydrocortisone. […] Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol. […] Patients with classic CAH also take another medicine, fludrocortisone, to replace aldosterone. […] People who have classic CAH need to wear a medical alert identification bracelet or necklace. […] Patients with classic CAH need to take medication daily for their entire lives. […] Symptoms of nonclassic CAH that signal that the patient may need treatment are: Early puberty, Excess body hair, Irregular menstrual periods (females), Infertility. […] Girls who are born with ambiguous external genitalia may need surgery. […] Surgery for treatment of classic CAH should be done by an experienced surgeon who has expertise with this specific type of surgery.

• #64 Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia

  If you have classic CAH, youll need to take these medications daily for life. If you stop taking the medications, your symptoms will return. […] Another treatment option includes surgery for ambiguous genitalia. Surgery two to six months after birth can correct the appearance and function of your babys genitals. In some cases, it may be appropriate to delay surgery for several years. […] If you dont have any symptoms, you may not need treatment. If you have mild symptoms, you may need a low dose of glucocorticoids. You usually wont need lifelong treatment. […] If you or your child has CAH, its important to seek mental healthcare to address any concerns. Mental healthcare is an important part of CAH treatment and can lead to an improved quality of life.

• #65 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

  https://www.endocrine.org/clinical-practice-guidelines/congenital-adrenal-hyperplasia-guideline-resources

  In patients with congenital adrenal hyperplasia who require treatment, we recommend always wearing or carrying medical identification indicating that they have adrenal insufficiency. […] In patients with congenital adrenal hyperplasia, we recommend educating patients and their guardians and close contacts on adrenal crisis prevention and increasing the dose of glucocorticoid (but not mineralocorticoid) during intercurrent illness. […] In patients with congenital adrenal hyperplasia, we suggest glucocorticoid treatment for nonclassic congenital adrenal hyperplasia. […] In asymptomatic nonpregnant individuals with nonclassic congenital adrenal hyperplasia we recommend against glucocorticoid treatment. […] In adult women with nonclassic congenital adrenal hyperplasia who also have patient-important hyperandrogenism or infertility we suggest glucocorticoid treatment.

• #66 Congenital adrenal hyperplasia

  https://dermnetnz.org/topics/congenital-adrenal-hyperplasia

  Treatment of classic congenital hyperplasia aims to replace glucocorticoid (cortisol) to prevent excessive ACTH secretion, using a small dose of dexamethasone, usually 0.5mg at nighttime. […] The levels of circulating androgens may be reduced by antiandrogen treatment. Available drugs include: Cyproterone acetate, Spironolactone, Flutamide, Finasteride. […] In the salt-losing form of congenital adrenal hyperplasia, mineralocorticoid, usually fludrocortisone at a dose of 0.1 mg, is given to maintain normal extracellular fluid volume and electrolyte levels. Blood pressure, electrolytes and plasma renin activity are monitored to assess the response. […] Treatment is with dexamethasone to correct hypertension and testosterone to accelerate sexual maturation. […] Treatment is the replacement of glucocorticoids, fludrocortisone and sex steroids from puberty onwards.

• #67 What is Congenital Adrenal Hyperplasia?: Testing and Treatments

  https://www.rupahealth.com/post/what-is-congenital-adrenal-hyperplasia-testing-and-treatments

  If needed, mineralocorticoid replacement is also used in those with aldosterone deficiency. Fludrocortisone helps to decrease the amount of sodium lost in the urine to help regulate electrolyte and fluid levels in the body. […] Management for patients with nonclassical CAH is tailored to the specific symptoms and hormone imbalances. For example, acne resulting from excess adrenal androgen production can be countered by giving glucocorticoids like low-dose prednisone (2.55 mg/day) or low-dose dexamethasone (0.250.75 mg), adjusting the dose to normalize the serum DHEAS level. Ongoing glucocorticoids carry risks of side effects like osteoporosis, so the dose and length of management should be limited. […] Excessive hair growth (hirsutism) in patients with CAH is managed with anti-androgen medications such as spironolactone, cyproterone acetate, and drospirenone. Alternatively, finasteride, a medication that inhibits the 5alpha-reductase enzyme involved in the production of androgens may be used.

• #68 Congenital adrenal hyperplasia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/diagnosis-treatment/drc-20355211

  With classic CAH, it’s a good idea to wear a medical identification bracelet or necklace that says you have congenital adrenal hyperplasia. It can help a healthcare team provide the right treatment in case of an emergency. […] The healthcare team may suggest reconstructive surgery as part of treatment. Surgery can help the genitals function better and look more typical. […] Mental health support is key for children and adults with CAH. It can help with the social and emotional parts of the condition. […] Treatment of CAH during pregnancy with lab-made corticosteroids that cross the placenta to the fetus are controversial and considered experimental. More research is needed to determine the long-term safety and the effect of this treatment on a baby’s brain.

• #69 Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia

  If you have classic CAH, youll need to take these medications daily for life. If you stop taking the medications, your symptoms will return. […] Another treatment option includes surgery for ambiguous genitalia. Surgery two to six months after birth can correct the appearance and function of your babys genitals. In some cases, it may be appropriate to delay surgery for several years. […] If you dont have any symptoms, you may not need treatment. If you have mild symptoms, you may need a low dose of glucocorticoids. You usually wont need lifelong treatment. […] If you or your child has CAH, its important to seek mental healthcare to address any concerns. Mental healthcare is an important part of CAH treatment and can lead to an improved quality of life.

• #70 Congenital Adrenal Hyperplasia – UF Health

  https://ufhealth.org/conditions-and-treatments/congenital-adrenal-hyperplasia

  The goal of treatment is to return hormone levels to normal, or near normal. Treatment may include taking: […] Medicine should be taken daily. People may need additional doses of medicine during times of stress, such as severe illness or surgery. Lifelong monitoring is needed to ensure that proper hormone levels are maintained. […] Steroids (such as hydrocortisone and fludrocortisone) used to treat CAH do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the body cannot make. […] People with nonclassic CAH may not need medicine or just need low doses of medicine. […] A team of health care professionals with expertise in CAH will work together to treat the child and support the family. […] Female children with ambiguous genitalia may need surgery to improve function and to create a more typical female appearance. […] Working with a mental health professional is an important part of a treatment plan for children with CAH and their families.

• #71 Support for Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/support

  Most symptoms of congenital adrenal hyperplasia can be managed with daily medication. […] Our psychologists offer counseling to help children and adolescents with congenital adrenal hyperplasia explore issues surrounding self-care, gender identity, appearance, and the importance of treatment.

• #72 Support for Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/support

  Most symptoms of congenital adrenal hyperplasia can be managed with daily medication. […] Our psychologists offer counseling to help children and adolescents with congenital adrenal hyperplasia explore issues surrounding self-care, gender identity, appearance, and the importance of treatment.

• #73 Support for Congenital Adrenal Hyperplasia | NYU Langone Health

  https://nyulangone.org/conditions/congenital-adrenal-hyperplasia/support

  Most symptoms of congenital adrenal hyperplasia can be managed with daily medication. […] Our psychologists offer counseling to help children and adolescents with congenital adrenal hyperplasia explore issues surrounding self-care, gender identity, appearance, and the importance of treatment.

• #74 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

  https://www.endocrine.org/clinical-practice-guidelines/congenital-adrenal-hyperplasia-guideline-resources

  In patients with congenital adrenal hyperplasia, we advise against using experimental treatment approaches outside of formally approved clinical trials. […] In patients with congenital adrenal hyperplasia, we suggest that bilateral adrenalectomy not be performed. […] For individuals with congenital adrenal hyperplasia and their parents, we recommend behavioral/mental health consultation and evaluation to address any concerns related to congenital adrenal hyperplasia.

• #75 Congenital Adrenal Hyperplasia | Endocrine Society

  https://www.endocrine.org/patient-engagement/endocrine-library/congenital-adrenal-hyperplasia

  The goals of treatment are to ensure proper hormone levels and promote normal growth, sexual development, and sexual function. Patients with classic CAH should have a team of health care providers, including specialists in pediatric endocrinology, pediatric urologic surgery, mental health, and genetics. Individuals with classic CAH are treated with medications called glucocorticoids to replace the cortisol their bodies can’t make. Extra glucocorticoids may be needed during times of stress, such as when a patient is sick with an infection. Individuals with classic CAH, especially those with the salt-wasting form, also need medicines called mineralocorticoids to replace the aldosterone they cant make. Newborns also may need sodium chloride (salt) supplements. Surgery can correct ambiguous genitalia in girls. Parents may choose to delay surgery until the child is old enough to help make the decision. Thus, genital reconstructive surgery should incorporate the shared decisions and values of parents, patients, surgeons, endocrinologists, mental health providers, and support groups. It is important that children with CAH and their caregivers seek mental health treatment to address any CAH-related psychosocial concerns. An important goal of CAH therapy is to improve mental health monitoring and quality of life.

• #76 Congenital Adrenal Hyperplasia | Texas DSHS

  https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/congenital-adrenal-hyperplasia-cah/congenital-adrenal-hyperplasia-a

  Your baby had a blood test shortly after birth to look for a number of inherited medical conditions which require early treatment. […] It is important for you to know that CAH is a completely treatable medical condition. Other than having to take daily medication, the child with CAH can have a completely normal life. […] CAH is never „outgrown”; treatment is required for life. The treatment for CAH is by replacement with hormone medications. […] The lack of cortisol is treated with a hormone medication similar to cortisol naturally occurring in the body. Some examples of this type of medication are hydrocortisone, cortisone, prednisone and dexamethasone. […] Both boys and girls need cortisol-like medication to control the excessive male-type hormone production. […] Some children will also need a salt-retaining hormone medication. The substitute medication for aldosterone is fludrocortisone (trade name: florinef).

• #77 Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-adrenal-hyperplasia

  Our program at CHOP offers patients and families various treatment options, including clinical trials, to address any potential complications of CAH, such as early puberty or growth disorders. […] Treatment of CAH can be challenging. Excessive treatment with glucocorticoids can lead to stunted growth, excessive weight gain and other long-term problems such as osteoporosis. […] To mediate the risks of over and under treatment, our program monitors children and teens with CAH for all potential complications associated with the disorder. […] Follow-up care continues throughout childhood as we track your childs height, weight, bone age and sexual development. […] With proper treatment, children with congenital adrenal hyperplasia can live normal lives and participate fully in school and other activities.

• #78 Congenital adrenal hyperplasia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/diagnosis-treatment/drc-20355211

  With classic CAH, it’s a good idea to wear a medical identification bracelet or necklace that says you have congenital adrenal hyperplasia. It can help a healthcare team provide the right treatment in case of an emergency. […] The healthcare team may suggest reconstructive surgery as part of treatment. Surgery can help the genitals function better and look more typical. […] Mental health support is key for children and adults with CAH. It can help with the social and emotional parts of the condition. […] Treatment of CAH during pregnancy with lab-made corticosteroids that cross the placenta to the fetus are controversial and considered experimental. More research is needed to determine the long-term safety and the effect of this treatment on a baby’s brain.

• #79 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

  https://www.endocrine.org/clinical-practice-guidelines/congenital-adrenal-hyperplasia-guideline-resources

  In patients with congenital adrenal hyperplasia who require treatment, we recommend always wearing or carrying medical identification indicating that they have adrenal insufficiency. […] In patients with congenital adrenal hyperplasia, we recommend educating patients and their guardians and close contacts on adrenal crisis prevention and increasing the dose of glucocorticoid (but not mineralocorticoid) during intercurrent illness. […] In patients with congenital adrenal hyperplasia, we suggest glucocorticoid treatment for nonclassic congenital adrenal hyperplasia. […] In asymptomatic nonpregnant individuals with nonclassic congenital adrenal hyperplasia we recommend against glucocorticoid treatment. […] In adult women with nonclassic congenital adrenal hyperplasia who also have patient-important hyperandrogenism or infertility we suggest glucocorticoid treatment.

• #80 Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-adrenal-hyperplasia

  Our program at CHOP offers patients and families various treatment options, including clinical trials, to address any potential complications of CAH, such as early puberty or growth disorders. […] Treatment of CAH can be challenging. Excessive treatment with glucocorticoids can lead to stunted growth, excessive weight gain and other long-term problems such as osteoporosis. […] To mediate the risks of over and under treatment, our program monitors children and teens with CAH for all potential complications associated with the disorder. […] Follow-up care continues throughout childhood as we track your childs height, weight, bone age and sexual development. […] With proper treatment, children with congenital adrenal hyperplasia can live normal lives and participate fully in school and other activities.

• #81 Congenital Adrenal Hyperplasia | Causes, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/congenital-adrenal-hyperplasia

  Our DSD team is made up of different types of doctors. Our DSD team also includes psychologists, geneticists, genetic counselors, child life specialists, social workers and ethicists. We provide care at all the stages of growing up, and treatment depends on each patients individual needs. Our team helps patients and families understand treatment options, answers questions, and addresses concerns. Concerns can be related to emotions, behaviors, development or adjustment. Our team also provides support and counseling. We want all our patients and families to experience the best quality of life possible. […] With appropriate treatment, children with CAH grow up healthy and are able to do everything children without CAH can do. They participate fully in school activities, sports and social events. Girls and women with CAH can have regular periods and can have children. Treatment is life-long, and adolescents and adults need to continue to see their endocrinologist and / or medical team and take their medicine. With good care, people with CAH are healthy and do well.

• #82 Congenital Adrenal Hyperplasia | Causes, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/congenital-adrenal-hyperplasia

  Our DSD team is made up of different types of doctors. Our DSD team also includes psychologists, geneticists, genetic counselors, child life specialists, social workers and ethicists. We provide care at all the stages of growing up, and treatment depends on each patients individual needs. Our team helps patients and families understand treatment options, answers questions, and addresses concerns. Concerns can be related to emotions, behaviors, development or adjustment. Our team also provides support and counseling. We want all our patients and families to experience the best quality of life possible. […] With appropriate treatment, children with CAH grow up healthy and are able to do everything children without CAH can do. They participate fully in school activities, sports and social events. Girls and women with CAH can have regular periods and can have children. Treatment is life-long, and adolescents and adults need to continue to see their endocrinologist and / or medical team and take their medicine. With good care, people with CAH are healthy and do well.

• #83 Congenital Adrenal Hyperplasia | Texas DSHS

  https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/congenital-adrenal-hyperplasia-cah/congenital-adrenal-hyperplasia-a

  With regular medication, your child with CAH can lead a normal life. There are no known intellectual disabilities associated with CAH. The life expectancy is normal. Women with CAH (if they take their medications as directed) have no difficulties becoming pregnant or carrying a baby, and men who take their medications appropriately have normal fertility.

• #84 Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-adrenal-hyperplasia

  Our program at CHOP offers patients and families various treatment options, including clinical trials, to address any potential complications of CAH, such as early puberty or growth disorders. […] Treatment of CAH can be challenging. Excessive treatment with glucocorticoids can lead to stunted growth, excessive weight gain and other long-term problems such as osteoporosis. […] To mediate the risks of over and under treatment, our program monitors children and teens with CAH for all potential complications associated with the disorder. […] Follow-up care continues throughout childhood as we track your childs height, weight, bone age and sexual development. […] With proper treatment, children with congenital adrenal hyperplasia can live normal lives and participate fully in school and other activities.

• #85 Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279085/

  The goal of therapy in CAH is to both correct the deficiency in cortisol secretion and to suppress ACTH overproduction. Proper treatment with glucocorticoid reduces stimulation of the androgen pathway, thus preventing further virilization and allowing normal growth and development. The usual requirement of hydrocortisone (or its equivalent) for the treatment of classical 21-OHD form of CAH is about 10-15 mg/m2/day divided into 2 or 3 doses per day and for non-classical 21-OHD 5-8 mg/m2/day divided into 2 or 3 doses per day. Hydrocortisone is the glucocorticoid of choice in the pediatric age group. Prednisolone and dexamethasone are not used in growing children given growth suppressive effects. A small dose of dexamethasone at bedtime (0.25 to 0.5 mg) is usually adequate for androgen suppression in non-classical adult patients. Adequate biochemical control is assessed by measuring serum levels 17-OHP and androstenedione; serum testosterone can be used in females and prepubertal males (but not newborn males). We recommend that hormone levels are measured at a consistent time in relation to medication dosing, usually 1-2 hours after the morning corticosteroid. Titration of the dose should be aimed at maintaining 17-OHP concentrations below 1000 ng/dL and androstenedione concentrations below 200 ng/dl. Over-treatment should be avoided because it can lead to Cushing syndrome. Patients with salt wasting CAH have elevated plasma renin in response to the sodium-deficient state, and they require treatment with the salt-retaining 9-fludrocortisone acetate. The average dose is 0.1 mg daily (0.05-0.2 mg daily). Infants should also be started on salt supplementation, as sodium chloride, at 1-2 g daily, divided into several feedings. Measurements of plasma renin and aldosterone are used to monitor the efficacy of mineralocorticoid therapy. Advancement of bone age is monitored by bone age x-rays. Growth hormone therapy, in conjunction with a GnRH analogue, has been shown to be effective in improving final adult height. Patients may also experience peripheral precocious puberty, which requires treatment with gonadotropin-releasing hormone analogues. Aromatase inhibitors and growth hormone therapy should only be used in patients with a very short predicted final stature or in clinical trials. Use of aromatase inhibitors in CAH has been shown decrease bone maturation rates and some increase in adult height but the differences were not statistically significant.

• #86 Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-adrenal-hyperplasia

  Our program at CHOP offers patients and families various treatment options, including clinical trials, to address any potential complications of CAH, such as early puberty or growth disorders. […] Treatment of CAH can be challenging. Excessive treatment with glucocorticoids can lead to stunted growth, excessive weight gain and other long-term problems such as osteoporosis. […] To mediate the risks of over and under treatment, our program monitors children and teens with CAH for all potential complications associated with the disorder. […] Follow-up care continues throughout childhood as we track your childs height, weight, bone age and sexual development. […] With proper treatment, children with congenital adrenal hyperplasia can live normal lives and participate fully in school and other activities.

• #87 Congenital adrenal hyperplasia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/congenital-adrenal-hyperplasia

  The goal of treatment is to return hormone levels to normal, or near normal. Treatment may include taking: […] Medicine should be taken daily. People may need additional doses of medicine during times of stress, such as severe illness or surgery. Lifelong monitoring is needed to ensure that proper hormone levels are maintained. […] A team of health care professionals with expertise in CAH will work together to treat the child and support the family. This team may include neonatologists, geneticists, endocrinologists, and psychiatrists or social workers. […] Working with a mental health professional is an important part of a treatment plan for children with CAH and their families.

• #88

  https://www.indianpediatrics.net/feb2020/feb-159-164.htm

  Stress doses of steroids to be continued during illness and stressful situations in all patients of CAH. […] Fludrocortisone should be supplemented in all infants with classical CAH irrespective of genotype/ phenotype. […] A salt intake of 1-3 g/day (5-10 mmol/kg/day) is recommended in SW-CAH to replace the hyponatremia which results from steroid deficiency. […] The goal of glucocorticoid supplementation in CAH is to achieve physiological replacement with maximal height potential and prevention of adrenal crisis and virilization. […] Early genital surgery during infancy is recommended for severely virilized (Prader stage 3) female babies. […] Prenatal steroids (oral dexamethasone) may be administered to a mother having an earlier baby with CAH to prevent virilization of an affected female fetus in current pregnancy. […] Treatment of CAH is lifelong and should be supported by a dedicated team of endocrinologists, geneticists, psychologists, surgeons and social workers.

• #89 Comprehensive Care Center for Congenital Adrenal Hyperplasia (CAH) | Patient Care

  https://weillcornell.org/comprehensive-care-center-for-congenital-adrenal-hyperplasia-cah

  Congenital Adrenal Hyperplasia (CAH) is a group of inherited medical conditions in which the adrenal glands do not function properly. […] We provide expert treatment for all classical, non-classical and rare types of CAH. […] Our specialists work together to provide a comprehensive plan for your child. We offer: Medical treatment from birth to adulthood, Surgical consultation and treatment for families and patients who wish to learn about genital surgery for girls with classical CAH, A transitional care program for adolescent children, to teach advocacy for their own healthcare as they enter their adult years, Psychosocial support for children and families, Nutritional counseling from registered nutritionists, Genetic counseling and prenatal testing for parents who know they carry the CAH gene, Coordination of other medical care, including referrals to physicians with CAH treatment expertise, Investigational therapies and the opportunity for children to participate in clinical trials that test new ways to care for CAH patients.

• #90 Comprehensive Care Center for Congenital Adrenal Hyperplasia (CAH) | Patient Care

  https://weillcornell.org/comprehensive-care-center-for-congenital-adrenal-hyperplasia-cah

  Congenital Adrenal Hyperplasia (CAH) is a group of inherited medical conditions in which the adrenal glands do not function properly. […] We provide expert treatment for all classical, non-classical and rare types of CAH. […] Our specialists work together to provide a comprehensive plan for your child. We offer: Medical treatment from birth to adulthood, Surgical consultation and treatment for families and patients who wish to learn about genital surgery for girls with classical CAH, A transitional care program for adolescent children, to teach advocacy for their own healthcare as they enter their adult years, Psychosocial support for children and families, Nutritional counseling from registered nutritionists, Genetic counseling and prenatal testing for parents who know they carry the CAH gene, Coordination of other medical care, including referrals to physicians with CAH treatment expertise, Investigational therapies and the opportunity for children to participate in clinical trials that test new ways to care for CAH patients.

• #91 Comprehensive Care Center for Congenital Adrenal Hyperplasia (CAH) | Patient Care

  https://weillcornell.org/comprehensive-care-center-for-congenital-adrenal-hyperplasia-cah

  Congenital Adrenal Hyperplasia (CAH) is a group of inherited medical conditions in which the adrenal glands do not function properly. […] We provide expert treatment for all classical, non-classical and rare types of CAH. […] Our specialists work together to provide a comprehensive plan for your child. We offer: Medical treatment from birth to adulthood, Surgical consultation and treatment for families and patients who wish to learn about genital surgery for girls with classical CAH, A transitional care program for adolescent children, to teach advocacy for their own healthcare as they enter their adult years, Psychosocial support for children and families, Nutritional counseling from registered nutritionists, Genetic counseling and prenatal testing for parents who know they carry the CAH gene, Coordination of other medical care, including referrals to physicians with CAH treatment expertise, Investigational therapies and the opportunity for children to participate in clinical trials that test new ways to care for CAH patients.

• #92 Comprehensive Care Center for Congenital Adrenal Hyperplasia (CAH) | Patient Care

  https://weillcornell.org/comprehensive-care-center-for-congenital-adrenal-hyperplasia-cah

  Congenital Adrenal Hyperplasia (CAH) is a group of inherited medical conditions in which the adrenal glands do not function properly. […] We provide expert treatment for all classical, non-classical and rare types of CAH. […] Our specialists work together to provide a comprehensive plan for your child. We offer: Medical treatment from birth to adulthood, Surgical consultation and treatment for families and patients who wish to learn about genital surgery for girls with classical CAH, A transitional care program for adolescent children, to teach advocacy for their own healthcare as they enter their adult years, Psychosocial support for children and families, Nutritional counseling from registered nutritionists, Genetic counseling and prenatal testing for parents who know they carry the CAH gene, Coordination of other medical care, including referrals to physicians with CAH treatment expertise, Investigational therapies and the opportunity for children to participate in clinical trials that test new ways to care for CAH patients.

• #93 Comprehensive Care Center for Congenital Adrenal Hyperplasia (CAH) | Patient Care

  https://weillcornell.org/comprehensive-care-center-for-congenital-adrenal-hyperplasia-cah

  Congenital Adrenal Hyperplasia (CAH) is a group of inherited medical conditions in which the adrenal glands do not function properly. […] We provide expert treatment for all classical, non-classical and rare types of CAH. […] Our specialists work together to provide a comprehensive plan for your child. We offer: Medical treatment from birth to adulthood, Surgical consultation and treatment for families and patients who wish to learn about genital surgery for girls with classical CAH, A transitional care program for adolescent children, to teach advocacy for their own healthcare as they enter their adult years, Psychosocial support for children and families, Nutritional counseling from registered nutritionists, Genetic counseling and prenatal testing for parents who know they carry the CAH gene, Coordination of other medical care, including referrals to physicians with CAH treatment expertise, Investigational therapies and the opportunity for children to participate in clinical trials that test new ways to care for CAH patients.

• #94 Comprehensive Care Center for Congenital Adrenal Hyperplasia (CAH) | Patient Care

  https://weillcornell.org/comprehensive-care-center-for-congenital-adrenal-hyperplasia-cah

  Congenital Adrenal Hyperplasia (CAH) is a group of inherited medical conditions in which the adrenal glands do not function properly. […] We provide expert treatment for all classical, non-classical and rare types of CAH. […] Our specialists work together to provide a comprehensive plan for your child. We offer: Medical treatment from birth to adulthood, Surgical consultation and treatment for families and patients who wish to learn about genital surgery for girls with classical CAH, A transitional care program for adolescent children, to teach advocacy for their own healthcare as they enter their adult years, Psychosocial support for children and families, Nutritional counseling from registered nutritionists, Genetic counseling and prenatal testing for parents who know they carry the CAH gene, Coordination of other medical care, including referrals to physicians with CAH treatment expertise, Investigational therapies and the opportunity for children to participate in clinical trials that test new ways to care for CAH patients.

• #95 Comprehensive Care Center for Congenital Adrenal Hyperplasia (CAH) | Patient Care

  https://weillcornell.org/comprehensive-care-center-for-congenital-adrenal-hyperplasia-cah

  Congenital Adrenal Hyperplasia (CAH) is a group of inherited medical conditions in which the adrenal glands do not function properly. […] We provide expert treatment for all classical, non-classical and rare types of CAH. […] Our specialists work together to provide a comprehensive plan for your child. We offer: Medical treatment from birth to adulthood, Surgical consultation and treatment for families and patients who wish to learn about genital surgery for girls with classical CAH, A transitional care program for adolescent children, to teach advocacy for their own healthcare as they enter their adult years, Psychosocial support for children and families, Nutritional counseling from registered nutritionists, Genetic counseling and prenatal testing for parents who know they carry the CAH gene, Coordination of other medical care, including referrals to physicians with CAH treatment expertise, Investigational therapies and the opportunity for children to participate in clinical trials that test new ways to care for CAH patients.

• #96 Congenital adrenal hyperplasia – Overview of Information and Clinical Research

  https://clinicaltrials.eu/disease/congenital-adrenal-hyperplasia/

  Effective Management of Congenital Adrenal Hyperplasia (CAH) is a complex genetic disorder that requires a multifaceted approach to management and care. […] The cornerstone of CAH treatment is lifelong hormone replacement therapy. This involves daily administration of medications such as hydrocortisone, prednisone, or dexamethasone to replace deficient cortisol levels. […] Additionally, fludrocortisone is used to replace aldosterone, particularly in cases of salt-wasting CAH. […] Mental health support is a vital component of CAH management. It helps address the social and emotional challenges associated with the condition. […] Regular checkups are essential to ensure the effectiveness of the treatment plan. […] With early detection and appropriate treatment, individuals with CAH can lead healthy, productive lives.

• #97 Management challenges and therapeutic advances in congenital adrenal hyperplasia | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-022-00655-w

  Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s following the discovery of the structure and function of adrenocortical hormones. […] Management is complicated by a combination of comorbidities that arise from disease-related hormonal derangements and treatment-related adverse effects. […] Standard-of-care glucocorticoid formulations fall short of replicating the circadian rhythm of cortisol and controlling efficient adrenocorticotrophic hormone-driven adrenal androgen production. […] Multiple alternative treatment approaches are being developed with the aim of tailoring therapy for improved patient outcomes. […] Furthermore, we examine new therapeutic developments, including treatments designed to replace cortisol in a physiological manner and adjunct agents intended to control excess androgens and thereby enable reductions in glucocorticoid doses.

• #98 New Clinical Developments in Congenital Adrenal Hyperplasia Treatment

  https://www.delveinsight.com/blog/congenital-adrenal-hyperplasia-treatment-landscape

  However, to improve the congenital adrenal hyperplasia treatment landscape, several pharmaceutical companies such as Neurocrine Biosciences, Diurnal Limited, Spruce Biosciences, Adrenas Therapeutics, Millendo Therapeutics, and others are evaluating their lead assets in various stages of development. The launch of these congenital adrenal hyperplasia therapies will boost the market growth. […] The congenital adrenal hyperplasia pipeline looks promising with some novel therapies, including Crinecerfont (Neurocrine Biosciences), SPR001 (Spruce Biosciences), Chronocort (Diurnal Limited), AAV BBP-631 (Adrenas Therapeutics), and others. […] The current congenital adrenal hyperplasia treatment focuses mostly on individuals with 21-hydroxylase insufficiency; however, prospective research on atypical CAH variants is expected to open the door for rare type therapies. Additionally, in developed countries across the world, prenatal and neonatal screening for CAH disease has been introduced, allowing for the early identification and congenital adrenal hyperplasia treatment in children. Moreover, current research and clinical studies for innovative therapeutic molecules such as selective corticotropin-releasing factor type 1-receptor inhibitors, gene therapy, and ACAT-1 inhibitors are showing promising results and will change the scenario of congenital adrenal hyperplasia treatment in the coming years.

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