Materiały źródłowe

• #1 Congenital adrenal hyperplasia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/congenital-adrenal-hyperplasia?content_id=CON-20228117

  There is no known way to prevent CAH. 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: MedlinePlus Medical EncyclopediaLock

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

  Because this is a genetic condition, there is no way to prevent it. However, parents with a family history of CAH (of any type) or a child who has the condition should consider genetic counseling.

• #3 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Newborn screening programs measuring 17-hydroxyprogesterone levels have significantly improved early detection and outcomes by identifying nearly all infants with classic (severe) CAH due to 21-OH deficiency, along with some milder variants. […] This activity provides an overview of the evaluation, diagnosis, and management of congenital adrenal hyperplasia, emphasizing the importance of timely detection and treatment. […] The goal of medical treatment for CAH varies depending on the patient’s age. CAH is inherited in an autosomal recessive manner, meaning both parents must be carriers of the recessive gene. Couples with a history of recessive CAH genes for CAH may prevent the condition through preimplantation genetic diagnosis. […] Newborn screening for CAH is routinely performed in all 50 states of the United States and at least 40 other countries. This screening is primarily aimed at detecting common 21-OH deficiency CAH, which can lead to salt-wasting and potentially life-threatening adrenal crises.

• #4 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Newborn screening programs measuring 17-hydroxyprogesterone levels have significantly improved early detection and outcomes by identifying nearly all infants with classic (severe) CAH due to 21-OH deficiency, along with some milder variants. […] This activity provides an overview of the evaluation, diagnosis, and management of congenital adrenal hyperplasia, emphasizing the importance of timely detection and treatment. […] The goal of medical treatment for CAH varies depending on the patient’s age. CAH is inherited in an autosomal recessive manner, meaning both parents must be carriers of the recessive gene. Couples with a history of recessive CAH genes for CAH may prevent the condition through preimplantation genetic diagnosis. […] Newborn screening for CAH is routinely performed in all 50 states of the United States and at least 40 other countries. This screening is primarily aimed at detecting common 21-OH deficiency CAH, which can lead to salt-wasting and potentially life-threatening adrenal crises.

• #5 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  A positive newborn screening result for CAH requires confirmation with a second plasma sample to measure 17-OHP levels, along with serum electrolyte testing. Following the confirmatory blood sample, glucocorticoid treatment and mineralocorticoid treatment if necessary should be promptly initiated in all infants suspected of having CAH to prevent life-threatening adrenal crises. […] Educating parents, caregivers, and older patients with CAH about the signs, symptoms, prevention, and emergency treatment of adrenal crises is a crucial aspect of CAH management. All patients with CAH should be advised to wear medical identification and keep a glucocorticoid emergency injection kit readily available for use during adrenal crises. […] Current research is focused on developing more physiological glucocorticoid replacements, as standard therapies often fail to control excess androgen production and pose the risk of supraphysiological steroid exposure.

• #6 RFTS – Home Page

  https://www.wvdhhr.org/nbms/diseases/Congenital_Adrenal_Hyperplasia.asp

  Congenital adrenal hyperplasia (CAH) is a family of inherited disorders of the adrenal cortex that impair steroidogenic enzyme activity essential for cortisol biosynthesis. […] Prompt diagnosis and treatment of CAH is essential to prevent potential mortality as well as physical and emotional morbidity. […] The goals of newborn screening are to (1) prevent life-threatening adrenal crisis, thereby averting shock, brain damage, and death, (2) prevent male sex assignment for life in virilized female newborns, and (3) prevent progressive effects of excess adrenal androgens, which cause short stature and psychosexual disturbances in boys and girls. […] Thus, prevention of severe SW CAH by newborn screening was demonstrated. […] The mortality rate of individuals with CAH identified through newborn screening has not been established yet.

• #7 congenital adrenal hyperplasia prenatal treatment

  https://caresfoundation.org/reproduction-fertility-prenatal-treatment/

  Ever since the first case was described, more than 20 years ago (1), where prenatal virilization was prevented with dexamethasone (DEX) in a CAH affected female fetus, the treatment has been intensely debated. […] The rationale for prenatal treatment is to treat the fetus with a glucocorticoid via the mother, in order to suppress the fetal adrenal androgen production that is increased in fetuses with severe forms of CAH (the salt-wasting and simple virilizing variants). […] A mother that has previously given birth to a child with severe CAH can thus be offered treatment with DEX at 6-7th week of pregnancy in the next coming pregnancy. […] The positive effects of the treatment in reducing or ameliorating genital virilization in affected girls are nowadays undisputable. […] Thus, the current follow-up studies on humans suggest that DEX treatment does not have major teratogenic effects (birth defects).

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

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

  Prenatal testing using amniocentesis or chorionic villus sampling has been successful in diagnosing congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency and 11-beta-hydroxylase deficiency if a sibling had a known mutation or deletion in a previous pregnancy. […] Prenatal treatment of congenital adrenal hyperplasia appears to be somewhat successful in preventing the virilization due to 21-hydroxylase deficiency in a female fetus. […] According to the protocol Carlson et al proposed, the mother is treated with 20 mcg/kg/d of dexamethasone divided into three doses as soon as the pregnancy is recognized to suppress fetal ACTH secretion and to prevent the fetal adrenal gland from overproducing adrenal androgens. […] Dexamethasone treatment is discontinued if chorionic villus sampling (done at 8-12 weeks’ gestation) or amniocentesis (done at 18-20 weeks’ gestation) indicates that the fetus is male or if genetic analysis indicates that the fetus is unaffected.

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

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

  Prenatal testing using amniocentesis or chorionic villus sampling has been successful in diagnosing congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency and 11-beta-hydroxylase deficiency if a sibling had a known mutation or deletion in a previous pregnancy. […] Prenatal treatment of congenital adrenal hyperplasia appears to be somewhat successful in preventing the virilization due to 21-hydroxylase deficiency in a female fetus. […] According to the protocol Carlson et al proposed, the mother is treated with 20 mcg/kg/d of dexamethasone divided into three doses as soon as the pregnancy is recognized to suppress fetal ACTH secretion and to prevent the fetal adrenal gland from overproducing adrenal androgens. […] Dexamethasone treatment is discontinued if chorionic villus sampling (done at 8-12 weeks’ gestation) or amniocentesis (done at 18-20 weeks’ gestation) indicates that the fetus is male or if genetic analysis indicates that the fetus is unaffected.

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

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

  Prenatal testing using amniocentesis or chorionic villus sampling has been successful in diagnosing congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency and 11-beta-hydroxylase deficiency if a sibling had a known mutation or deletion in a previous pregnancy. […] Prenatal treatment of congenital adrenal hyperplasia appears to be somewhat successful in preventing the virilization due to 21-hydroxylase deficiency in a female fetus. […] According to the protocol Carlson et al proposed, the mother is treated with 20 mcg/kg/d of dexamethasone divided into three doses as soon as the pregnancy is recognized to suppress fetal ACTH secretion and to prevent the fetal adrenal gland from overproducing adrenal androgens. […] Dexamethasone treatment is discontinued if chorionic villus sampling (done at 8-12 weeks’ gestation) or amniocentesis (done at 18-20 weeks’ gestation) indicates that the fetus is male or if genetic analysis indicates that the fetus is unaffected.

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

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

  Because only the female fetus is at risk of disfigurement from virilization, this strategy results in unnecessary treatment in seven of eight fetuses. […] However, because virilization occurs within the first 12 weeks’ gestation, the virilization of an affected female fetus will have already occurred if one waits until the sex and diagnosis of the fetus are known. […] So far, this strategy has not resulted in an increase in fetal wastage or congenital malformations in treated pregnancies. […] However, it is associated with considerable maternal adverse effects during the pregnancy. […] Long-term follow-up studies are ongoing and required to determine whether dexamethasone treatment in early pregnancy results in any long-term adverse effects. […] This issue remains highly controversial. Therefore, it is recommended that prenatal treatment be done within the confines of clinical research.

• #12 congenital adrenal hyperplasia prenatal treatment

  https://caresfoundation.org/reproduction-fertility-prenatal-treatment/

  Ever since the first case was described, more than 20 years ago (1), where prenatal virilization was prevented with dexamethasone (DEX) in a CAH affected female fetus, the treatment has been intensely debated. […] The rationale for prenatal treatment is to treat the fetus with a glucocorticoid via the mother, in order to suppress the fetal adrenal androgen production that is increased in fetuses with severe forms of CAH (the salt-wasting and simple virilizing variants). […] A mother that has previously given birth to a child with severe CAH can thus be offered treatment with DEX at 6-7th week of pregnancy in the next coming pregnancy. […] The positive effects of the treatment in reducing or ameliorating genital virilization in affected girls are nowadays undisputable. […] Thus, the current follow-up studies on humans suggest that DEX treatment does not have major teratogenic effects (birth defects).

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

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

  Because only the female fetus is at risk of disfigurement from virilization, this strategy results in unnecessary treatment in seven of eight fetuses. […] However, because virilization occurs within the first 12 weeks’ gestation, the virilization of an affected female fetus will have already occurred if one waits until the sex and diagnosis of the fetus are known. […] So far, this strategy has not resulted in an increase in fetal wastage or congenital malformations in treated pregnancies. […] However, it is associated with considerable maternal adverse effects during the pregnancy. […] Long-term follow-up studies are ongoing and required to determine whether dexamethasone treatment in early pregnancy results in any long-term adverse effects. […] This issue remains highly controversial. Therefore, it is recommended that prenatal treatment be done within the confines of clinical research.

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

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

  Because only the female fetus is at risk of disfigurement from virilization, this strategy results in unnecessary treatment in seven of eight fetuses. […] However, because virilization occurs within the first 12 weeks’ gestation, the virilization of an affected female fetus will have already occurred if one waits until the sex and diagnosis of the fetus are known. […] So far, this strategy has not resulted in an increase in fetal wastage or congenital malformations in treated pregnancies. […] However, it is associated with considerable maternal adverse effects during the pregnancy. […] Long-term follow-up studies are ongoing and required to determine whether dexamethasone treatment in early pregnancy results in any long-term adverse effects. […] This issue remains highly controversial. Therefore, it is recommended that prenatal treatment be done within the confines of clinical research.

• #15 congenital adrenal hyperplasia prenatal treatment

  https://caresfoundation.org/reproduction-fertility-prenatal-treatment/

  It is therefore important that additional studies of larger cohorts are designed to make more decisive conclusions on the safety of this controversial treatment and preferably the treatment should only be given within the frames of a clinical study in order to ascertain accurate follow-up of the mother, the fetus and the growing child. […] Until then, it is important that the parents are thoroughly informed about the potential risks and uncertainties as well as the benefits of the treatment.

• #16 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

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

  All newborn screening programs should incorporate screening for congenital adrenal hyperplasia, and infants with positive screens should be referred to pediatric endocrinologists. […] Prenatal therapy for congenital adrenal hyperplasia should be avoided (except as part of ethically-approved protocols) due to incompletely defined postnatal risks. […] Healthcare professionals should inform all parents of pediatric patients with CAH (particularly girls with ambiguous genitalia) about surgical options, including delaying surgery until the child is older. […] All surgical decisions for minors should be the prerogative of families (i.e., parents with assent from older children) in joint decision making with experienced surgical consultants. […] Adolescents with congenital adrenal hyperplasia should start the transition to adult care several years prior to dismissal from pediatric endocrinology to ensure continuation of care throughout their entire life.

• #17 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  Newborn screening programs measuring 17-hydroxyprogesterone levels have significantly improved early detection and outcomes by identifying nearly all infants with classic (severe) CAH due to 21-OH deficiency, along with some milder variants. […] This activity provides an overview of the evaluation, diagnosis, and management of congenital adrenal hyperplasia, emphasizing the importance of timely detection and treatment. […] The goal of medical treatment for CAH varies depending on the patient’s age. CAH is inherited in an autosomal recessive manner, meaning both parents must be carriers of the recessive gene. Couples with a history of recessive CAH genes for CAH may prevent the condition through preimplantation genetic diagnosis. […] Newborn screening for CAH is routinely performed in all 50 states of the United States and at least 40 other countries. This screening is primarily aimed at detecting common 21-OH deficiency CAH, which can lead to salt-wasting and potentially life-threatening adrenal crises.

• #18 Congenital adrenal hyperplasia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/congenital-adrenal-hyperplasia?content_id=CON-20228117

  There is no known way to prevent CAH. 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.

• #19 Congenital Adrenal Hyperplasia (CAH): Causes & Treatment | Baptist Health

  https://www.baptisthealth.com/care-services/conditions-treatments/congenital-adrenal-hyperplasia

  There is currently no known way to prevent Congenital Adrenal Hyperplasia. This condition is inherited and cannot be cured. However, with early diagnosis and appropriate lifelong management, people with CAH can lead healthy, fulfilling lives. […] If you or your partner are carriers of the CAH gene mutation or have a family history of CAH, genetic counseling could be beneficial to better understand the potential risks and to make informed decisions about family planning.

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

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

  Prenatal testing using amniocentesis or chorionic villus sampling has been successful in diagnosing congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency and 11-beta-hydroxylase deficiency if a sibling had a known mutation or deletion in a previous pregnancy. […] Prenatal treatment of congenital adrenal hyperplasia appears to be somewhat successful in preventing the virilization due to 21-hydroxylase deficiency in a female fetus. […] According to the protocol Carlson et al proposed, the mother is treated with 20 mcg/kg/d of dexamethasone divided into three doses as soon as the pregnancy is recognized to suppress fetal ACTH secretion and to prevent the fetal adrenal gland from overproducing adrenal androgens. […] Dexamethasone treatment is discontinued if chorionic villus sampling (done at 8-12 weeks’ gestation) or amniocentesis (done at 18-20 weeks’ gestation) indicates that the fetus is male or if genetic analysis indicates that the fetus is unaffected.

• #21 Congenital Adrenal Hyperplasia (CAH): Types & Treatment

  https://www.verywellhealth.com/congenital-adrenal-hyperplasia-8647239

  You can’t prevent CAH in a baby, but you can screen for genes associated with congenital adrenal hyperplasia. […] Advances in prenatal genetic testing and in vitro fertilization (IVF) make it possible to use preimplantation genetic testing, such as PGT-M, to screen for gene mutations that cause CAH, so only unaffected embryos are implanted. […] However, these preventive measures are complex, costly, and may not be a viable or justifiable option for everyone.

• #22

  https://link.springer.com/article/10.1007/s11154-022-09770-5

  Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. […] If pregnancy is not desired, contraception options should be offered. […] Due to the possible pregnancy complications and implications on the offspring, preconception genetic testing and counseling with a high-risk obstetrics specialist is recommended. […] For couples trying to avoid having a child with CAH, care with a reproductive endocrinology and infertility specialist to utilize in vitro fertilization can be offered, with or without preimplantation genetic testing for monogenic disorders. […] Routine genetic carrier screening, which includes CAH due to 21-hydroxylase deficiency, is becoming more affordable and is recommended by the American College of Obstetrics and Gynecology to be offered to all pregnant patients and those desiring pregnancy during preconception visits, especially if undergoing an infertility work up and in vitro fertilization (IVF).

• #23

  https://link.springer.com/article/10.1007/s11154-022-09770-5

  Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. […] If pregnancy is not desired, contraception options should be offered. […] Due to the possible pregnancy complications and implications on the offspring, preconception genetic testing and counseling with a high-risk obstetrics specialist is recommended. […] For couples trying to avoid having a child with CAH, care with a reproductive endocrinology and infertility specialist to utilize in vitro fertilization can be offered, with or without preimplantation genetic testing for monogenic disorders. […] Routine genetic carrier screening, which includes CAH due to 21-hydroxylase deficiency, is becoming more affordable and is recommended by the American College of Obstetrics and Gynecology to be offered to all pregnant patients and those desiring pregnancy during preconception visits, especially if undergoing an infertility work up and in vitro fertilization (IVF).

• #24

  https://link.springer.com/article/10.1007/s11154-022-09770-5

  Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. […] If pregnancy is not desired, contraception options should be offered. […] Due to the possible pregnancy complications and implications on the offspring, preconception genetic testing and counseling with a high-risk obstetrics specialist is recommended. […] For couples trying to avoid having a child with CAH, care with a reproductive endocrinology and infertility specialist to utilize in vitro fertilization can be offered, with or without preimplantation genetic testing for monogenic disorders. […] Routine genetic carrier screening, which includes CAH due to 21-hydroxylase deficiency, is becoming more affordable and is recommended by the American College of Obstetrics and Gynecology to be offered to all pregnant patients and those desiring pregnancy during preconception visits, especially if undergoing an infertility work up and in vitro fertilization (IVF).

• #25 Revista Española Endocrinología Pediátrica – Update on Congenital Adrenal Hyperplasia

  https://www.endocrinologiapediatrica.org/modules.php?name=articulos&idarticulo=659&idlangart=EN

  Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive disorders in steroid hormone biosynthesis causing deficient cortisol biosynthesis. […] Thus, an important emerging task for paediatricians providing care for children and young people with CAH is the prevention of such long-term health problems. […] Several novel experimental pharmacotherapies with the aim to reduce glucocorticoid exposure and to mimic physiological glucocorticoid secretion are under development.

• #26 Optimising care delivery in congenital adrenal hyperplasia | ECE2019 | 21st European Congress of Endocrinology | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0063/ea0063s19.3

  Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. […] An important emerging task for paediatric health care provision in CAH is the prevention of long-term health problems. […] Several novel experimental pharmacotherapies with the aim to reduce glucocorticoid exposure and to mimic physiological glucocorticoid secretion are under development. […] All of these ongoing approaches have will in theory improve CAH management; however, the evidence for improved long-term outcomes is lacking.

• #27 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

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

  Growing individuals with classic congenital adrenal hyperplasia should receive maintenance therapy with hydrocortisone and should avoid chronic use of more potent or long-acting glucocorticoids, which can have adverse side effects. […] Patients with congenital adrenal hyperplasia (and parents of minors) should seek mental health treatment to address any congenital adrenal hyperplasia-related psychosocial problems.

• #28

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

  Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manage associated morbidities. […] Early initiation of oral hydrocortisone in divided doses is recommended after diagnosis in newborn period, infancy and childhood. Fludrocortisone is recommended for all infants with classical CAH. […] Newborn screening helps in early diagnosis, correct gender assignment and timely initiation of corticosteroid therapy thereby reducing mortality. […] The treatment of classical CAH is lifelong with steroids. […] Therefore, it is essential to initiate appropriate and early therapy and formulate a plan of regular follow-up. […] Fludrocortisone should be supplemented in all infants with classical CAH irrespective of genotype/ phenotype. All infants with salt losing should be prescribed oral salt supplements 1-3 g day.

• #29

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

  Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manage associated morbidities. […] Early initiation of oral hydrocortisone in divided doses is recommended after diagnosis in newborn period, infancy and childhood. Fludrocortisone is recommended for all infants with classical CAH. […] Newborn screening helps in early diagnosis, correct gender assignment and timely initiation of corticosteroid therapy thereby reducing mortality. […] The treatment of classical CAH is lifelong with steroids. […] Therefore, it is essential to initiate appropriate and early therapy and formulate a plan of regular follow-up. […] Fludrocortisone should be supplemented in all infants with classical CAH irrespective of genotype/ phenotype. All infants with salt losing should be prescribed oral salt supplements 1-3 g day.

• #30 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  A positive newborn screening result for CAH requires confirmation with a second plasma sample to measure 17-OHP levels, along with serum electrolyte testing. Following the confirmatory blood sample, glucocorticoid treatment and mineralocorticoid treatment if necessary should be promptly initiated in all infants suspected of having CAH to prevent life-threatening adrenal crises. […] Educating parents, caregivers, and older patients with CAH about the signs, symptoms, prevention, and emergency treatment of adrenal crises is a crucial aspect of CAH management. All patients with CAH should be advised to wear medical identification and keep a glucocorticoid emergency injection kit readily available for use during adrenal crises. […] Current research is focused on developing more physiological glucocorticoid replacements, as standard therapies often fail to control excess androgen production and pose the risk of supraphysiological steroid exposure.

• #31 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  A positive newborn screening result for CAH requires confirmation with a second plasma sample to measure 17-OHP levels, along with serum electrolyte testing. Following the confirmatory blood sample, glucocorticoid treatment and mineralocorticoid treatment if necessary should be promptly initiated in all infants suspected of having CAH to prevent life-threatening adrenal crises. […] Educating parents, caregivers, and older patients with CAH about the signs, symptoms, prevention, and emergency treatment of adrenal crises is a crucial aspect of CAH management. All patients with CAH should be advised to wear medical identification and keep a glucocorticoid emergency injection kit readily available for use during adrenal crises. […] Current research is focused on developing more physiological glucocorticoid replacements, as standard therapies often fail to control excess androgen production and pose the risk of supraphysiological steroid exposure.

• #32 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. 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. There is no single objective parameter for determining the optimal dose of GCs. HC should be given in 3 or 4 divided doses at a supraphysiological dose of 10-15 mg/m2/day for adequate control of adrenal androgen production in most patients. Fludrocortisone is started in all newborns with classical CAH detected in neonatal screening programs before hyponatremia develops. Patients should be monitored regularly with physical examinations that include measurements of height, body weight, and blood pressure. In patients with CAH, close monitoring should be performed in the first 3 months of life, evaluation should be made every 3 months between 3-18 months, and every 4 months after 18 months. 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. 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.

• #33 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. 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. There is no single objective parameter for determining the optimal dose of GCs. HC should be given in 3 or 4 divided doses at a supraphysiological dose of 10-15 mg/m2/day for adequate control of adrenal androgen production in most patients. Fludrocortisone is started in all newborns with classical CAH detected in neonatal screening programs before hyponatremia develops. Patients should be monitored regularly with physical examinations that include measurements of height, body weight, and blood pressure. In patients with CAH, close monitoring should be performed in the first 3 months of life, evaluation should be made every 3 months between 3-18 months, and every 4 months after 18 months. 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. 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.

• #34 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

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

  All newborn screening programs should incorporate screening for congenital adrenal hyperplasia, and infants with positive screens should be referred to pediatric endocrinologists. […] Prenatal therapy for congenital adrenal hyperplasia should be avoided (except as part of ethically-approved protocols) due to incompletely defined postnatal risks. […] Healthcare professionals should inform all parents of pediatric patients with CAH (particularly girls with ambiguous genitalia) about surgical options, including delaying surgery until the child is older. […] All surgical decisions for minors should be the prerogative of families (i.e., parents with assent from older children) in joint decision making with experienced surgical consultants. […] Adolescents with congenital adrenal hyperplasia should start the transition to adult care several years prior to dismissal from pediatric endocrinology to ensure continuation of care throughout their entire life.

• #35 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

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

  Growing individuals with classic congenital adrenal hyperplasia should receive maintenance therapy with hydrocortisone and should avoid chronic use of more potent or long-acting glucocorticoids, which can have adverse side effects. […] Patients with congenital adrenal hyperplasia (and parents of minors) should seek mental health treatment to address any congenital adrenal hyperplasia-related psychosocial problems.

• #36 Congenital Adrenal Hyperplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK448098/

  A positive newborn screening result for CAH requires confirmation with a second plasma sample to measure 17-OHP levels, along with serum electrolyte testing. Following the confirmatory blood sample, glucocorticoid treatment and mineralocorticoid treatment if necessary should be promptly initiated in all infants suspected of having CAH to prevent life-threatening adrenal crises. […] Educating parents, caregivers, and older patients with CAH about the signs, symptoms, prevention, and emergency treatment of adrenal crises is a crucial aspect of CAH management. All patients with CAH should be advised to wear medical identification and keep a glucocorticoid emergency injection kit readily available for use during adrenal crises. […] Current research is focused on developing more physiological glucocorticoid replacements, as standard therapies often fail to control excess androgen production and pose the risk of supraphysiological steroid exposure.

• #37 Revista Española Endocrinología Pediátrica – Update on Congenital Adrenal Hyperplasia

  https://www.endocrinologiapediatrica.org/modules.php?name=articulos&idarticulo=659&idlangart=EN

  Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive disorders in steroid hormone biosynthesis causing deficient cortisol biosynthesis. […] Thus, an important emerging task for paediatricians providing care for children and young people with CAH is the prevention of such long-term health problems. […] Several novel experimental pharmacotherapies with the aim to reduce glucocorticoid exposure and to mimic physiological glucocorticoid secretion are under development.

• #38 Optimising care delivery in congenital adrenal hyperplasia | ECE2019 | 21st European Congress of Endocrinology | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0063/ea0063s19.3

  Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. […] An important emerging task for paediatric health care provision in CAH is the prevention of long-term health problems. […] Several novel experimental pharmacotherapies with the aim to reduce glucocorticoid exposure and to mimic physiological glucocorticoid secretion are under development. […] All of these ongoing approaches have will in theory improve CAH management; however, the evidence for improved long-term outcomes is lacking.

• #39 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

  The overall purpose of this evidence-based review is to provide good practice points, with focus on recommendations for daily management. […] Continuous subcutaneous administration of HC mimics physiological cortisol release. It is especially useful in patients with rapid cortisol metabolism or impaired intestinal absorption, but this approach is not as practical as oral medications. […] There is not enough data regarding the use of continuous slow-release or modified-release HC preparations and continuous subcutaneous HC infusion in children with CAH.

• #40 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.

• #41 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.

• #42 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

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

  All newborn screening programs should incorporate screening for congenital adrenal hyperplasia, and infants with positive screens should be referred to pediatric endocrinologists. […] Prenatal therapy for congenital adrenal hyperplasia should be avoided (except as part of ethically-approved protocols) due to incompletely defined postnatal risks. […] Healthcare professionals should inform all parents of pediatric patients with CAH (particularly girls with ambiguous genitalia) about surgical options, including delaying surgery until the child is older. […] All surgical decisions for minors should be the prerogative of families (i.e., parents with assent from older children) in joint decision making with experienced surgical consultants. […] Adolescents with congenital adrenal hyperplasia should start the transition to adult care several years prior to dismissal from pediatric endocrinology to ensure continuation of care throughout their entire life.

• #43 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

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

  All newborn screening programs should incorporate screening for congenital adrenal hyperplasia, and infants with positive screens should be referred to pediatric endocrinologists. […] Prenatal therapy for congenital adrenal hyperplasia should be avoided (except as part of ethically-approved protocols) due to incompletely defined postnatal risks. […] Healthcare professionals should inform all parents of pediatric patients with CAH (particularly girls with ambiguous genitalia) about surgical options, including delaying surgery until the child is older. […] All surgical decisions for minors should be the prerogative of families (i.e., parents with assent from older children) in joint decision making with experienced surgical consultants. […] Adolescents with congenital adrenal hyperplasia should start the transition to adult care several years prior to dismissal from pediatric endocrinology to ensure continuation of care throughout their entire life.

• #44 Best Practices for Congenital Adrenal Hyperplasia Updated

  https://www.diabetesincontrol.com/best-practices-for-congenital-adrenal-hyperplasia-updated/

  Best practices have been updated for screening and managing congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. […] The authors recommend that all newborn screening programs include screening for CAH due to 21-hydroxylase deficiency. Infants who screen positive should be referred to pediatric endocrinologists. […] Parents of pediatric patients should be advised about surgical options, including delaying surgery until the child is older. […] Extensive discussions about risks and benefits, shared decision making, and review of complications should take place before surgery. […] Our new guideline stresses the importance of shared decision-making between health care professionals, patients, and their families when it comes to treatment and the need for ongoing care.

• #45 Congenital adrenal hyperplasia: MedlinePlus Medical EncyclopediaLock

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

  Because this is a genetic condition, there is no way to prevent it. However, parents with a family history of CAH (of any type) or a child who has the condition should consider genetic counseling.

• #46 Congenital Adrenal Hyperplasia | Endocrinology Consultants | Englewood, NJ

  https://www.endocrinewellness.com/congenital-adrenal-hyperplasia/

  Are There Preventative Steps Or Measures To Avoid Congenital Adrenal Hyperplasia? No, it is a genetic disorder. […] There is no cure, but with proper management, patients with CAH may minimize complications of the disease and maintain a good quality of life.

• #47

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

  Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manage associated morbidities. […] Early initiation of oral hydrocortisone in divided doses is recommended after diagnosis in newborn period, infancy and childhood. Fludrocortisone is recommended for all infants with classical CAH. […] Newborn screening helps in early diagnosis, correct gender assignment and timely initiation of corticosteroid therapy thereby reducing mortality. […] The treatment of classical CAH is lifelong with steroids. […] Therefore, it is essential to initiate appropriate and early therapy and formulate a plan of regular follow-up. […] Fludrocortisone should be supplemented in all infants with classical CAH irrespective of genotype/ phenotype. All infants with salt losing should be prescribed oral salt supplements 1-3 g day.

• #48 Congenital adrenal hyperplasia: MedlinePlus Medical EncyclopediaLock

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

  Because this is a genetic condition, there is no way to prevent it. However, parents with a family history of CAH (of any type) or a child who has the condition should consider genetic counseling.

• #49 Congenital Adrenal Hyperplasia (CAH): Types & Treatment

  https://www.verywellhealth.com/congenital-adrenal-hyperplasia-8647239

  You can’t prevent CAH in a baby, but you can screen for genes associated with congenital adrenal hyperplasia. […] Advances in prenatal genetic testing and in vitro fertilization (IVF) make it possible to use preimplantation genetic testing, such as PGT-M, to screen for gene mutations that cause CAH, so only unaffected embryos are implanted. […] However, these preventive measures are complex, costly, and may not be a viable or justifiable option for everyone.

• #50 Prevention of ambiguous genitalia by prenatal treatment with dexamethasone in pregnancies at risk for congenital adrenal hyperplasia

  https://www.degruyter.com/document/doi/10.1351/pac200375112013/html?lang=en

  Prevention of ambiguous genitalia by prenatal treatment with dexamethasone in pregnancies at risk for congenital adrenal hyperplasia. […] Prevention of ambiguous genitalia by prenatal treatment with dexamethasone in pregnancies at risk for congenital adrenal hyperplasia.

• #51 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. The purpose of this newborn screening test is to detect disorders before they can cause problems for your child. […] It is important to have your child tested as soon as possible. Untreated CAH can result in serious illness and, in some cases, death. […] 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. […] Both boys and girls need cortisol-like medication to control the excessive male-type hormone production.

• #52 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

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

  Growing individuals with classic congenital adrenal hyperplasia should receive maintenance therapy with hydrocortisone and should avoid chronic use of more potent or long-acting glucocorticoids, which can have adverse side effects. […] Patients with congenital adrenal hyperplasia (and parents of minors) should seek mental health treatment to address any congenital adrenal hyperplasia-related psychosocial problems.

• #53 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

  Some children will also need a salt-retaining hormone medication. […] 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.

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