Materiały źródłowe

• #1 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. […] Regular checkups are needed to make sure the medicines work well. These appointments usually include: […] Mental health support is key for children and adults with CAH. It can help with the social and emotional parts of the condition. Look for a mental health professional who has experience helping people with CAH. […] A decision about the timing of surgery should be made after a thorough discussion between the family and the healthcare team.

• #1 Nursing Management of Congenital Adrenal Hyperplasia (CAH): – Education, Managment and use of Multi-Media Technology | ECE2018 | 20th European Congress of Endocrinology | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0056/ea0056n3.1

  Nursing Management of Congenital Adrenal Hyperplasia (CAH): – Education, Managment and use of Multi-Media Technology […] Patient education and support is an integral part of this health care process, from the delivery of a diagnosis and explanation by medical staff to the more detailed education provided by nurses in order to help families understand the practical aspects of management. […] At this time the nurse-patient relationship is crucial in providing emotional support and explanation to support the parents through their grief process. Recognition of specific illness stressors (emotional, cognitive, practical) affecting any learning process needs to be addressed in order to support parental ability to cope and understand. The endocrine nurse role is to provide psychosocial support, education and advocacy. Evaluation and management of the emotional needs of the parents and the clinical needs of the child is an essential component. Providing education initially for parents and child as they grow through adolescence to adulthood and is ongoing, at the same time continually supporting the parents about their long-term fears for their child’s future in adult life.

• #1 Congenital Adrenal Hyperplasia Clinic | Children’s Hospital Los Angeles

  https://www.chla.org/center-endocrinology-diabetes-and-metabolism/programs-and-services/congenital-adrenal-hyperplasia-clinic

  Families who choose the CAH Clinic at Childrens Hospital Los Angeles benefit from: […] We run support groups and offer opportunities for you to connect with families who have children with similar diagnoses. […] When babies receive a CAH diagnosis, we provide extensive CAH education for caregivers. […] We actively work on identifying adult providers who have a special interest in CAH. […] Our comprehensive treatment team includes the expertise of: […] Treatment plans might include medication, weight management or psychological support.

• #1 Congenital Adrenal Hyperplasia Treatment | Children’s Hospital Los Angeles

  https://www.chla.org/center-endocrinology-diabetes-and-metabolism/diagnosis-and-treatment/congenital-adrenal-hyperplasia

  Your child also needs to wear a medical bracelet or necklace to alert medical professionals in case of an emergency. It should say, adrenal insufficiency, requires hydrocortisone. Caregivers also need to know how and when to give emergency treatment for adrenal insufficiency. […] When acute adrenal crisis occurs, children must receive an immediate injection of hydrocortisone. If your child has primary adrenal insufficiency, you will receive an emergency kit with an injection of this emergency medication. A specialized nurse will train you on when and how to administer the injection. […] Classical CAH can cause atypical external genitalia in females. The Division of Urology at Childrens Hospital is a designated Medical and Surgical Center of Excellence for CAH by the CARES Foundation (Congenital Adrenal Hyperplasia Research, Education and Support). Our team works closely with each family to create a personalized surgical plan.

• #1 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 pediatric specialists, part of Hassenfeld Children’s Hospital at NYU Langone, work with families to help them address other aspects of the condition, including the psychological impact. […] 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.

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

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

  Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect your adrenal glands. Treatment includes various steroids to replace the hormones your body cant make. […] 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.

• #1 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. […] Our pediatric endocrinologists monitor children who are being treated with these medications every three to four months to ensure normal growth and development. As a child grows, the medication dosage may need to be adjusted. […] 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.

• #1 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

  Classic CAH Newborns with classic CAH should start treatment very soon after birth to reduce the effects of CAH. 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. Eating salty foods or taking salt pills may also help salt-wasters retain salt. […] Adults and children with classic CAH need close medical attention and may need to take more of their medication during these times. They may also need more medication if they: Have an illness with a high fever. Undergo surgery. Sustain a major injury. […] People who have classic CAH need to wear a medical alert identification bracelet or necklace. To alert medical professionals in case of an emergency, the bracelet or necklace should read: „adrenal insufficiency, requires hydrocortisone.” Adults or parents also need to learn how to give an injection of hydrocortisone if there is an emergency.

• #1 Congenital Adrenal Hyperplasia

  https://pedemmorsels.com/congenital-adrenal-hyperplasia/

  CAH refers to a group of disorders that each has an enzyme deficiency that is involved in the manufacturing of cortisol, aldosterone, or both. […] Treatment considerations for the child in Shock due to CAH. […] Treat the hyponatremia. Generally IV normal saline will be sufficient at first. Oral mineralocorticoid (ex. Florinef) will be started once they are rehydrated. Occasionally IV mineralocorticoid is necessary. […] Treat the hypoglycemia. This will likely need to be done expeditiously and needs to be watched closely as they IV fluids will tend to make them drop the glucose level again. After first IV Fluid bolus, include dextrose in remaining fluids. […] Treat the hyperkalemia. 12 lead ECG! It is rare that the hyperkalemia is severe enough to require therapy, but you never know. Calcium! Insulin therapy may be required, but make sure to augment the dextrose in the fluids first.

• #1 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

  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. […] Continuous subcutaneous administration of HC mimics physiological cortisol release. […] Treatment goals for classical CAH include both hormonal replacement and reducing adrenal androgen production. […] 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.

• #1 Congenital Adrenal Hyperplasia – Essential Resources for the Treatment of Congenital Adrenal Hyperplasia

  https://www.patientcareonline.com/toolkits/congenital-adrenal-hyperplasia

  Essential Resources for the Treatment of Congenital Adrenal Hyperplasia […] The cortisol deficiency central to congenital adrenal hyperplasia requires lifelong treatment with distinct shifts in management required at each developmental stage. […] Clinical guideline recommendations for optimal timing to gauge glucocorticoid treatment effects in congenital adrenal hyperplasia require individualization. Here’s why. […] In young adults with congenital adrenal hyperplasia of age to transition to adult care, 25% to 50% are not successful. Here are thoughts on problems and solutions. […] The standard of care for congenital adrenal hyperplasia has not changed in more than 60 years nor have the challenges it presents been overcome. […] Investigational treatments for congenital adrenal hyperplasia are focused on new ways to manage symptoms without the need for supraphysiologic doses of glucocorticoids. […] Current therapies fall short of quelling the long-term exposure to and adverse effects of excessive androgen levels experienced by adults with CAH.

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

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

  If your child has congenital adrenal hyperplasia (CAH), that means they may make too much of some essential hormones and not enough of others. The good news is they can avoid serious illness and continue to grow when they are treated by congenital adrenal hyperplasia specialists, like those in the Congenital Adrenal Hyperplasia Program at Children’s Hospital of Philadelphia (CHOP). […] While an experienced endocrinologist manages overall care, CHOP’s CAH Program brings in experts from across the hospital to address the changing needs of a person with CAH, from infancy to young adult life. They provide support for both your child and your family. […] For a child with CAH, the goal is to keep their hormones in balance with medications. They need blood work every three months to measure their hormone levels. Determining hormone dosages and when to change them is a big part of treatment.

• #1 Congenital Adrenal Hyperplasia Management Across the Lifespan

  https://www.patientcareonline.com/view/congenital-adrenal-hyperplasia-management-across-the-lifespan

  Lifelong treatment goals include preventing life-threatening adrenal crises from cradle to grave and preventing or at least minimizing long-term clinical sequelae of the disease and the treatment. […] Support for healthy emotional development and optimal quality of life is recommended during all phases. […] Adequate suppression of androgen production during early life is critical to allow normal growth and development including achievement of average adult height. […] GC-related suppression of growth is particularly noticeable during infancy and puberty, making careful monitoring of drug dose, dosing, and subsequent adjustment essential. […] Clinical guidelines recommend that infants up to 18 months of age be closely monitored during the first 3 months and then every 3 months after that.

• #1 Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

  https://www.e-cep.org/journal/view.php?doi=10.3345/kjp.2017.60.2.31

  Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. […] Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers. […] Therefore, the safe transition of adolescents to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric and adult endocrinologists. […] The major goals for management of adults with 21-hydroxylase deficiency are to minimize the long-term complications of glucocorticoid therapy, reduce hyperandrogenism, prevent adrenal or testicular adrenal rest tumors, maintain fertility, and improve quality of life. […] Successful transition from pediatric to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric endocrinologists, urologists, gynecologists, psychiatrists, and adult endocrinologists.

• #1 Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

  https://www.e-cep.org/journal/view.php?doi=10.3345/kjp.2017.60.2.31

  The major treatment goals during transition from pediatric to adult care are to minimize the long-term complications of glucocorticoid therapy, to reduce adrenal hyperandrogenism, to prevent adrenal or testicular adrenal rest tumors (TARTs), to maintain fertility, and to optimize quality of life. […] Extensive education of patients and coordination of services among health-care providers for adults with 21-hydroxylase deficiency remains a major task during the transition from pediatric to adult care. […] In adults with CAH whose growth and development are complete, the goal of treatment is to prevent long-term complications, to preserve fertility and satisfactory sexual function, and to maintain general wellbeing and physical performance. […] Pediatric doses of glucocorticoids should be reassessed during the transition to adult care in order to avoid overtreatment.

• #1 Congenital Adrenal Hyperplasia Management Across the Lifespan

  https://www.patientcareonline.com/view/congenital-adrenal-hyperplasia-management-across-the-lifespan

  A phased approach should be structured and include psychological support as well as ongoing education about the disease itself as the young person appears receptive and on the essentials of self-care. […] Care for individuals with CAH across the lifespan includes instruction and remedial instruction from a young age in use of increased GC dosage, or stress dosing (2-3 times usual dose), during periods of fever, gastroenteritis with dehydration, major surgery accompanied by general anesthesia, and major trauma. […] Although the frequency of adrenal crises has decreased over time, perhaps as a result of greater awareness, guidelines and researchers in the field of CAH stress that parents and children require repeated education on the stress dosing regimen and the situations that require medical attention. […] Above all, the management of the patient with [CAH] should recognize that these patients are vulnerable to all the other diseases that people without this condition suffer, and they require the same general healthcare as any adult.

• #1 Congenital adrenal hyperplasia (CAH) in neonates | Safer Care Victoria

  https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/congenital-adrenal-hyperplasia-cah-in-neonates

  A paediatric endocrinologist should be involved in all cases of congenital adrenal hyperplasia. […] Families will need referral to an endocrinologist/geneticist for appropriate counselling. […] Children affected by congenital adrenal hyperplasia usually remain metabolically stable for the first seven to 10 days of life. […] Adrenal crises (usually heralded by vomiting and failure to thrive) are often sudden and life threatening. […] Salt replacement, in addition to both lifelong glucocorticoid and mineralocorticoid replacement, is usually required in the first three to six months of life. […] Acute medical management: If the patient is haemodynamically compromised, resuscitation with intravenous normal saline and stress doses hydrocortisone is required. […] Hypoglycaemia may need correction with intravenous dextrose but care should be taken with the water load exacerbating hyponatraemia.

• #1 Congenital Adrenal Hyperplasia Guideline Resources | Endocrine Society

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

  Patients with congenital adrenal hyperplasia (and parents of minors) should seek mental health treatment to address any congenital adrenal hyperplasia-related psychosocial problems. […] In all pediatric patients with congenital adrenal hyperplasia particularly minimally virilized girls, we advise that parents be informed about surgical options, including delaying surgery and/ or observation until the child is older. […] In the treatment of minors with congenital adrenal hyperplasia, we advise that all surgical decisions remain the prerogative of families (i.e., parents and assent from older children) in joint decision making with experienced surgical consultants. […] 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.

• #1 Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

  https://www.e-cep.org/journal/view.php?doi=10.3345/kjp.2017.60.2.31

  Adults with classic CAH are treated with physiologic doses of hydrocortisone to prevent adrenal insufficiency; however, this does not suppress adrenocorticotropic hormone and adrenal androgen production. […] The need for mineralocorticoids decreases with age, because levels of serum aldosterone are high and renal mineralocorticoid receptor mRNA are low at birth. […] Regular appropriate hormone measurements should be taken during the transition from pediatric to adult care. […] Periodic screening for TARTs by testicular ultrasonography is also necessary from adolescence onward. […] Multidisciplinary guidance in the area of psychosexual function is critical with regards to gender identity or dysphoria. […] This transition should be processed gradually; therefore, it is recommended that pediatric endocrinologists, gynecologists, urologists, psychiatrist, and adult endocrinologists perform joint clinics for transferring CAH patients to adult care. […] Optimal treatment of adults with 21-hydroxylase deficiency can be achieved through a multidisciplinary approach, including consultation with pediatric and adult endocrinologists.

• #1 Congenital adrenal hyperplasia (CAH) in neonates | Safer Care Victoria

  https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/congenital-adrenal-hyperplasia-cah-in-neonates

  Consideration for social work and psychological support for a family is most important at this critical point, because the stress of this diagnosis and its lifelong implications is severe. […] Maintenance medication treatment: Once stabilised, oral hydrocortisone (10-15 mg/m2/day, given TDS) and fludrocortisone (0.15 mg/ m2/day, given BD) therapy should be instituted. […] Additional salt (0.5-1.0 gm/10 kg/day) replacement is usually required for the first 3-6 months, although there is some variance in opinion regarding this. […] There is no cure for CAH, but medications (glucocorticoids and mineralocorticoids) are effective in managing the condition. They assist in replacing low levels of hormones and suppressing those that are in excess. […] More specific management is required during periods of stress and illness.

• #1 AGEING WITH CONGENITAL ADRENAL HYPERPLASIA | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/142-winter-2021/features/ageing-with-congenital-adrenal-hyperplasia/

  In this article, I touch on a range of experiences of living and ageing as a female adult with classical salt-wasting congenital adrenal hyperplasia (CAH). […] The earlier people with CAH engage in holistic dialogue about the ageing process, the greater our chances of improving our long term outcomes for well-being and quality of life. […] Moreover, partnership between the medical community and support groups has brought much positive change for the physical and mental health of people with CAH. […] People with CAH want to meet others with the same condition. […] This needs to happen on a universal and sustained basis that is embedded in the wider care pathway. […] Thus, we share ways to take care of ourselves based on experience, and we help each other to believe we are worth taking care of, and that we do have some control in improving our own health outcomes, especially as we age.

• #1 Congenital Adrenal Hyperplasia Management Across the Lifespan

  https://www.patientcareonline.com/view/congenital-adrenal-hyperplasia-management-across-the-lifespan

  The cortisol deficiency central to congenital adrenal hyperplasia requires lifelong treatment with distinct shifts in management required at each developmental stage. […] CAH requires lifelong complex therapeutic management, however, made more challenging by the multiple long-term complications related to the disease itself and to the primary medications (ie, glucocorticoids [GCs]) that affect growth and development, metabolic and cardiovascular health, fertility, and mental health. […] The primary goals of ongoing treatment shift over time and include optimizing linear growth and bone maturation in infants and children, avoiding central precocious puberty in adolescence, supporting the transition from pediatric to adult care, preventing virilization in females, and optimizing fertility in young adults.

• #1 Congenital Adrenal Hyperplasia in Adults: Essential Care Tips

  https://www.rupahealth.com/post/congenital-adrenal-hyperplasia-in-adults-essential-care-tips

  Fertility challenges are common but can be managed with hormone therapy, assisted reproduction, or surgery. […] Bone health is a priority due to the risk of osteoporosis from long-term glucocorticoid use. Preventive measures include calcium, vitamin D, and regular bone density checks. […] Mental health support is also essential, as anxiety, depression, or quality of life concerns often arise. […] Effective management of CAH in adults requires a multidisciplinary approach involving various specialists to address the patient’s diverse needs. […] Empowering patients through education is key to effective long-term management of CAH. Patients should be equipped to recognize early signs of adrenal crises and understand emergency care procedures. […] A well-balanced diet is essential in managing adrenal insufficiency and supporting energy levels. Proper nutrition also helps mitigate the risks associated with long-term glucocorticoid use, such as osteoporosis.

• #1 AGEING WITH CONGENITAL ADRENAL HYPERPLASIA | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/142-winter-2021/features/ageing-with-congenital-adrenal-hyperplasia/

  Common concerns of adults with CAH include loneliness and isolation, fertility and reproduction, increased impact of stress as we age, osteoporosis, complications from early surgeries, struggles at work, menopause, difficulties with medication, feelings of shame, lack of access to endocrinologists with sufficient knowledge of CAH, and poor body image. […] I have been fortunate in the care I have received. […] However, much of this was mirrored in the treatment of many disabled children in the 1960s and 1970s. […] There is no doubt endocrinologists are passionate about improving their patients quality of life. […] However, to bring about further improvements in our health and well-being, a stronger partnership is needed with those with CAH and groups supporting people with a range of variations of sex characteristics.

• #1 Congenital Adrenal Hyperplasia in Adults: Essential Care Tips

  https://www.rupahealth.com/post/congenital-adrenal-hyperplasia-in-adults-essential-care-tips

  Congenital Adrenal Hyperplasia (CAH) is a genetic disorder impacting the adrenal glands, reducing their ability to produce hormones like cortisol and aldosterone. […] Lifelong care and regular monitoring are essential to prevent complications and maintain health. […] Regular cortisol, aldosterone, and androgen monitoring is essential for managing CAH. Monitoring helps adjust treatments and prevent complications related to hormone imbalances. […] Managing CAH in adults involves tailored hormone replacement and adjustments for different life stages. […] Glucocorticoid replacement is essential to manage cortisol deficiency. […] For those with salt-wasting CAH, mineralocorticoid replacement (like fludrocortisone) helps regulate salt and water balance. […] Treatment adjustments are needed during life events like pregnancy, surgery, or stress, when higher glucocorticoid doses may be required.

• #1 Neurocrine Biosciences Announces Classic Congenital Adrenal Hyperplasia Supplement Published Today in The Journal of Clinical Endocrinology & Metabolism | Neurocrine Biosciences

  https://neurocrine.gcs-web.com/news-releases/news-release-details/neurocrine-biosciences-announces-classic-congenital-adrenal

  CRENESSITY (crinecerfont) is a prescription medicine used together with glucocorticoids (steroids) to control androgen (testosterone-like hormone) levels in adults and children 4 years of age and older with classic congenital adrenal hyperplasia (CAH). […] Healthcare providers can work with patients to determine the appropriate formulation for use depending on patient needs. Patients receiving CRENESSITY should continue GC therapy for cortisol replacement.”

• #1 Congenital Adrenal Hyperplasia (CAH)

  https://www.cookchildrens.org/services/urology/specialty-programs/congenital-adrenal-hyperplasia/

  When your child is diagnosed with a rare condition, you want to find the pediatric team with the knowledge and experience necessary to provide your child with the best possible outcome. Cook Children’s Congenital Adrenal Hyperplasia program is made up of specialists whose training and years of practice have made them recognized experts in the care of children from birth through adolescence with this condition. […] Our Behavioral Health specialists also provide ongoing support for parents, patients and families to help them cope with the impacts of CAH, and ensure positive outcomes for your child, now and in the future. […] Our team services 10 different satellite clinics, including Fort Worth, Abilene, Amarillo, Denton, Hurst, Lewisville, Midland, San Angelo, Tyler, Waco. For patients who attend the outlying clinics we have the availability of telemedicine and we offer our patients the opportunity to see their local Cook Children’s endocrinologist in the satellite clinic. Once per year, patients come to the congenital adrenal hyperplasia clinic in Fort Worth for a fine tuning of the program and for education and meeting with other families.

• #1 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. […] The Comprehensive Care Center for Congenital Adrenal Hyperplasia healthcare team includes pediatric and adult endocrinologists, urologists, surgeons, newborn medicine specialists, nurse practitioners, patient care coordinators, nutritionists, geneticists, genetic counselors, reproductive specialists, and mental health providers. 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. […] We have multiple specialists working together and are therefore able to address various needs of our patients from birth into adulthood within one academic medical center.

• #1 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. […] 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. […] With early detection and medication, you can lead a healthy, productive life with CAH. If you have classic CAH, youll need to take your medications daily for life. If you stop taking your medications, your symptoms will return. […] Learning your child has a genetic condition may seem overwhelming. But children born with congenital adrenal hyperplasia (CAH) have a good prognosis with early detection and treatment. CAH can have some difficult complications, so early treatment is vital.

• #1 Management of Childhood Congenital Adrenal Hyperplasia-An Integrative Review of the Literature – PubMed

  https://pubmed.ncbi.nlm.nih.gov/28416079/

  Congenital adrenal hyperplasia (CAH) is an endocrine condition that requires parents to administer steroids up to three times daily, supplementing maintenance doses with oral or injectable doses during times of illness. […] Families having a child with CAH face complex concerns related their child’s growth, the fear of adrenal crisis events, and the consequences of atypical genitalia for affected girls. […] Future studies should focus on interventions that provide guidelines to increase parental preparedness in managing adrenal crises and creating support systems for affected girls.

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

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

  Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect your adrenal glands. Treatment includes various steroids to replace the hormones your body cant make. […] 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.

• #2 Congenital adrenal hyperplasia (CAH) in neonates | Safer Care Victoria

  https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/congenital-adrenal-hyperplasia-cah-in-neonates

  Consideration for social work and psychological support for a family is most important at this critical point, because the stress of this diagnosis and its lifelong implications is severe. […] Maintenance medication treatment: Once stabilised, oral hydrocortisone (10-15 mg/m2/day, given TDS) and fludrocortisone (0.15 mg/ m2/day, given BD) therapy should be instituted. […] Additional salt (0.5-1.0 gm/10 kg/day) replacement is usually required for the first 3-6 months, although there is some variance in opinion regarding this. […] There is no cure for CAH, but medications (glucocorticoids and mineralocorticoids) are effective in managing the condition. They assist in replacing low levels of hormones and suppressing those that are in excess. […] More specific management is required during periods of stress and illness.

• #2 Congenital Adrenal Hyperplasia (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/congenital-adrenal-hyperplasia.html

  Children with CAH are treated by a care team. The team usually includes the child’s primary care doctor, a pediatric endocrinologist, a urologist, and a geneticist. […] A child with severe CAH needs lifelong hormone replacement and extra cortisol during times of illness, stress, or injury. […] Treatment with hydrocortisone replaces the cortisol deficiency, and prevents low blood sugars and low blood pressure. It can help prevent the effects on growth and puberty that untreated CAH causes. Children with aldosterone deficiency may need treatment with fludrocortisone (a medicine that works like aldosterone) to maintain body salt balance. Some infants may also have to take salt supplements by mouth. […] With the recommended hormone treatment and close follow-up with a pediatric endocrinologist, children with CAH can grow and develop like other children. In adulthood, most will be able to have children of their own. […] Caregivers should learn when and how to give emergency treatment (such as for a serious illness or injury), including how to give an injection of hydrocortisone, if needed. […] Kids with CAH should wear a medical ID necklace or bracelet.

• #2 Get Congenital Adrenal Hyperplasia Care | Cleveland Clinic Children’s

  https://my.clevelandclinic.org/pediatrics/services/congenital-adrenal-hyperplasia-treatment

  Congenital adrenal hyperplasia requires lifelong treatment. Our team focuses on managing your child’s hormone levels, which can help them have more typical growth and sexual development. […] Your child’s care team will keep a close eye on their condition. They’ll do this through regular checkups and blood tests to check hormone levels. […] It’s important to help your child with their mental and emotional health. Managing a lifelong condition like CAH can be stressful. Our child life specialists and child psychologists are here to listen to their concerns. […] Please know that you and your child are not alone in this journey. We’re here to support you both and your family every step of the way through diagnosis, treatment and compassionate care throughout their life.

• #2 Congenital Adrenal Hyperplasia Treatment | Children’s Hospital Los Angeles

  https://www.chla.org/center-endocrinology-diabetes-and-metabolism/diagnosis-and-treatment/congenital-adrenal-hyperplasia

  We run multiple support groups to help caregivers and children, teens and young adults adjust to a CAH diagnosis and connect with others. We also host educational conferences for the CAH community. […] When its time for teenagers to begin transitioning to adult care, we facilitate a smooth hand-off to ensure young adults experience no gaps in care.

• #2 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.

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

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

  Complications of congenital adrenal hyperplasia are common. Too little glucocorticoid results in adrenal insufficiency and further virilization in the virilizing forms. Complications of excessive administration of glucocorticoids include growth failure, obesity, striae, hypertension, hyperglycemia, and cataracts. […] Closely monitor patients with adrenal hyperplasia for adequacy of dosing of glucocorticoids, mineralocorticoids, or both. Too little glucocorticoid results in symptoms of adrenal insufficiency (eg, anorexia, nausea, vomiting, abdominal pain, asthenia) and progressive virilization and advancement of skeletal maturation in virilizing forms.

• #2 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. […] Our pediatric endocrinologists monitor children who are being treated with these medications every three to four months to ensure normal growth and development. As a child grows, the medication dosage may need to be adjusted. […] 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.

• #2 Congenital Adrenal Hyperplasia | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/congenital-adrenal-hyperplasia/

  Every person with adrenal insufficiency should wear a Medical Alert emergency bracelet or necklace, which can help others identify a person’s needs in an emergency. […] If a person is exhibiting signs or symptoms of adrenal crisis, they should seek emergency medical assistance immediately. […] Please speak with your healthcare team regarding specific individual treatment plans/medication management during an adrenal crisis. […] If you are concerned that your child may be experiencing an adrenal crisis, please contact your child’s care team and seek the nearest emergency room.

• #2 Congenital Adrenal Hyperplasia

  https://pedemmorsels.com/congenital-adrenal-hyperplasia/

  Give Cortisol. Ideally you will obtain a bunch of blood prior to giving cortisol (or even the dextrose) as once it is given the diagnosis may be clouded but do what you have to do first. Style points can be argued about later. Blood should be sent for cortisol, aldosterone, and 17-hydroxyprogesterone levels. Plus you might want to consider inborn errors of metabolism too (so serum ammonia acids, urine organic acids, ammonia levels, etc). Hydrocortisone 50-100mg / meter2 or 1-2 mg/kg IV initial dose followed by same dose divided every 6 hours. […] So CAH is yet another condition that can have devastating consequences and yet present as a simple vomiting and dehydration picture. Remember that when you assessing the patient for SHOCK, consider: Sepsis, Hypovolemia, Obstructive process (ex, huge PE, tamponade, pneumothorax), Cardiogenic, Kortisol deficiency.

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

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

  Babies and children with classical CAH are seen frequently depending on age and response to treatment. Follow-up care continues throughout childhood as we track your child’s 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.

• #2 Congenital Adrenal Hyperplasia Management Across the Lifespan

  https://www.patientcareonline.com/view/congenital-adrenal-hyperplasia-management-across-the-lifespan

  The efficacy of treatment in children should be monitored with regular assessments of growth velocity, weight, blood pressure in addition to physical examinations. […] Regular biomarker assessments, however, should indicate the need for dose adjustment before changes in growth, bone age, and physical features are visible, with 17OHP and androstenedione currently the 2 used most frequently to evaluate treatment efficacy. […] Priorities shift in managing CAH during adolescence, from supporting physical growth and development to a focus on preserving long-term adult health, optimizing fertility and sexual function, and supporting healthy emotional development. […] Higher doses and for some youth more frequent doses of hydrocortisone are required during pubertal development. […] The transition period from CAH pediatric to adult care can be a time of significant anxiety and confusion, a passage made more complex as it occurs before full emotional maturity.

• #2 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. […] In patients with NCCAH, stress doses of HC is recommended for major surgery, trauma, or childbirth but only if the patient has a suboptimal cortisol response to the adrenocorticotropic hormone test. […] Clinical goals are to ensure normal growth, development, and pubertal maturation from birth to adolescence and to prevent adrenal crisis, virilization, and other long-term complications. […] The aim of treatment with GC is to prevent adrenal crisis, prevent hyperandrogenemia, and ensure normal age-appropriate growth and puberty.

• #2 Congenital Adrenal Hyperplasia (CAH) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/congenital-adrenal-hyperplasia/

  Reconstructive surgery is an option for girls with classical CAH if their genitals are not typical. Not every family wants or needs this, but some do. Our team talks with you in detail about surgery options and the many factors to consider when thinking about surgery. […] Seattle Childrens CAH team includes a psychologist and a social worker. Along with the rest of your team, they help your child and family find resources and cope with the stress and challenges of living with CAH. […] A nutritionist is on the team to help your family understand your childs nutrition needs and make food choices that support your childs long-term health. […] We work closely with teens and young adults to prepare and empower them to take on a greater role in their own care. Were committed to making sure that they are ready to enter the adult healthcare system and that they have the experienced providers they need. Seattle Childrens pediatric specialists partner with CAH experts from UW Medical Center to offer seamless care.

• #2 Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

  https://www.e-cep.org/journal/view.php?doi=10.3345/kjp.2017.60.2.31

  The major treatment goals during transition from pediatric to adult care are to minimize the long-term complications of glucocorticoid therapy, to reduce adrenal hyperandrogenism, to prevent adrenal or testicular adrenal rest tumors (TARTs), to maintain fertility, and to optimize quality of life. […] Extensive education of patients and coordination of services among health-care providers for adults with 21-hydroxylase deficiency remains a major task during the transition from pediatric to adult care. […] In adults with CAH whose growth and development are complete, the goal of treatment is to prevent long-term complications, to preserve fertility and satisfactory sexual function, and to maintain general wellbeing and physical performance. […] Pediatric doses of glucocorticoids should be reassessed during the transition to adult care in order to avoid overtreatment.

• #2 Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

  https://www.e-cep.org/journal/view.php?doi=10.3345/kjp.2017.60.2.31

  Adults with classic CAH are treated with physiologic doses of hydrocortisone to prevent adrenal insufficiency; however, this does not suppress adrenocorticotropic hormone and adrenal androgen production. […] The need for mineralocorticoids decreases with age, because levels of serum aldosterone are high and renal mineralocorticoid receptor mRNA are low at birth. […] Regular appropriate hormone measurements should be taken during the transition from pediatric to adult care. […] Periodic screening for TARTs by testicular ultrasonography is also necessary from adolescence onward. […] Multidisciplinary guidance in the area of psychosexual function is critical with regards to gender identity or dysphoria. […] This transition should be processed gradually; therefore, it is recommended that pediatric endocrinologists, gynecologists, urologists, psychiatrist, and adult endocrinologists perform joint clinics for transferring CAH patients to adult care. […] Optimal treatment of adults with 21-hydroxylase deficiency can be achieved through a multidisciplinary approach, including consultation with pediatric and adult endocrinologists.

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

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

  Infants with ambiguous genitalia should be closely observed for symptoms and signs of salt wasting while a diagnosis is being established. Clinical clues include abnormal weight loss or lack of expected weight gain. Electrolyte abnormalities generally take from a few days to 3 weeks to appear because the placenta maintains the fetal electrolytes in utero. In mild forms of salt-wasting adrenal hyperplasia, salt wasting may not become apparent until an illness stresses the child. […] Patients with dehydration, hyponatremia, or hyperkalemia and a possible salt-wasting form of adrenal hyperplasia should receive an intravenous (IV) bolus of isotonic sodium chloride solution (20 mL/kg or 450 mL/m2) over the first hour, as needed, to restore their intravascular volume and blood pressure. This dosage may be repeated if the blood pressure remains low.

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

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

  After samples are obtained to measure electrolyte, blood sugar, cortisol, aldosterone, and 17-hydroxyprogesterone concentrations, the patient should be treated with glucocorticoids based on suspected adrenal insufficiency. Treatment should not be withheld while confirmatory results are awaited because it may be life preserving. […] After the patient’s condition is stabilized, treat all patients who have adrenal hyperplasia with long-term glucocorticoid or aldosterone replacement (or both), depending on which enzyme is involved and on whether cortisol and/or aldosterone synthesis is affected. […] 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. Daily hydrocortisone and/or long-acting glucocorticoids plus mineralocorticoids are recommended, as clinically indicated, for adults with classic congenital adrenal hyperplasia. Behavioral/mental health consultation and evaluation are recommended for persons with CAH and for their parents, to address congenital adrenal hyperplasia-related concerns.

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

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

  Infants with ambiguous genitalia require surgical evaluation and, if needed, plans for corrective surgery. The traditional approach to the female patient with ambiguous genitalia due to adrenal hyperplasia is clitoral recession early in life followed by vaginoplasty after puberty. […] Some female infants with adrenal hyperplasia have only mild virilization and may not require corrective surgery if they receive adequate medical therapy to prevent further virilization. […] Patients with congenital adrenal hyperplasia should be on an unrestricted diet. Patients should have ample access to salt because salt wasting is common in some forms of the disease. Infants who have salt wasting generally benefit from supplementation with NaCl (2-4 g/d) added to their formula. […] Activity restriction is not necessary if appropriate glucocorticoid and mineralocorticoid therapy is provided.

• #2 Congenital Adrenal Hyperplasia – Children’s Hospital of Orange County

  https://choc.org/programs-services/urology/congenital-adrenal-hyperplasia/

  Immediately following the diagnosis of CAH, the child is placed on hormone replacement medication to level the hormones in the body. This is very important to do immediately after birth as 75% of children with CAH are deemed “salt-waters”. This means that the child’s adrenal glands are not producing enough aldosterone which can cause a child’s body to rapidly loose salt. These babies are diagnosed shortly after birth and must be given urgent steroid replacement, or they risk going into shock. […] After the child’s hormones are stabilized, our team’s goal is to normalize hormone levels through hormone replacement therapy. This therapy is provided to all children with CAH, regardless of whether they are “salt-wasters” or not. […] Surgery is also an option for females with atypical genitalia. Surgery is generally not needed in males. Generally, surgery is carried out after the child is 6 months old due to the increased safety of general anesthesia after this age. Our specialists work one-on-one with each family and discuss the types and timing of genital reconstructive surgery. Working together, we determine what is right for each individual child and the degree of masculinization that has occurred. There have been many advancements made in genital reconstructive surgery which now result in female genitalia that is both functional and normal.

• #2 Get Congenital Adrenal Hyperplasia Care | Cleveland Clinic Children’s

  https://my.clevelandclinic.org/pediatrics/services/congenital-adrenal-hyperplasia-treatment

  You’ve learned your child has congenital adrenal hyperplasia something you’ve never heard of. Now, you can’t stop thinking about their future. […] Cleveland Clinic Childrens expert healthcare providers are here to help. We have the answers about what CAH is and what to expect next. More importantly, you can feel confident knowing your child will get loving care. Every step of the way. […] Cleveland Clinic Childrens is here for you. We’ll help you and your child understand their care plan with all the support you both need. […] We personalize their care team and treatment to their specific diagnosis. […] Our team works closely together to provide compassionate, team-based care for every child, so we can deliver the best results. […] Our clinical studies are always changing, so ask your child’s care team if they may qualify for one.

• #2 Congenital Adrenal Hyperplasia Treatment | Children’s Hospital Los Angeles

  https://www.chla.org/center-endocrinology-diabetes-and-metabolism/diagnosis-and-treatment/congenital-adrenal-hyperplasia

  Your child may receive care from other specialists, including: Dermatologists for skin issues, such as acne; Dietitians for weight management; Genetic counselors for guidance on how genetic disorders may affect your family; Psychologists for care of living with a chronic condition, in addition to screening for co-existing conditions like depression, anxiety or ADHD; Radiologists for state-of-the-art imaging such as X-rays, ultrasounds or MRIs; Social workers for support with psychosocial needs, such as identifying financial resources, finding transportation or coordinating time away from school. […] When your child receives a classical CAH diagnosis, our specialists spend extensive time educating your family on how to care for the condition. As your child grows, we continue to offer robust support. When you choose Children’s Hospital Los Angeles for CAH treatment, you have easy access to highly trained experts.

• #2 AGEING WITH CONGENITAL ADRENAL HYPERPLASIA | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/142-winter-2021/features/ageing-with-congenital-adrenal-hyperplasia/

  In this article, I touch on a range of experiences of living and ageing as a female adult with classical salt-wasting congenital adrenal hyperplasia (CAH). […] The earlier people with CAH engage in holistic dialogue about the ageing process, the greater our chances of improving our long term outcomes for well-being and quality of life. […] Moreover, partnership between the medical community and support groups has brought much positive change for the physical and mental health of people with CAH. […] People with CAH want to meet others with the same condition. […] This needs to happen on a universal and sustained basis that is embedded in the wider care pathway. […] Thus, we share ways to take care of ourselves based on experience, and we help each other to believe we are worth taking care of, and that we do have some control in improving our own health outcomes, especially as we age.

• #2 Newborn screening information for congenital adrenal hyperplasia | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/congenital-adrenal-hyperplasia

  If congenital adrenal hyperplasia (CAH) is treated soon after birth, children can have healthy growth and development. This is why newborn screening is so important. […] Support groups can help connect families who have a child or other family member affected with congenital adrenal hyperplasia with a supportive community of people who have experience and expertise in living with the condition.

• #2 What is congenital adrenal hyperplasia (CAH)?

  https://caresfoundation.org/what-is-cah-2/

  Fortunately, one can manage CAH with medication and, with adequate care, allowing affected individuals to go on to live normal lives. […] The lack of adequate cortisol also prevents the body from properly metabolizing sugar and responding to stress. The lack of this stress response can lead to an adrenal crisis. […] We encourage all of those who have a connection to congenital adrenal hyperplasia (CAH) to join the CAH Community with CARES Foundation. Furthermore, joining the CARES community is completely free, and the best way to stay up to date on important information, updates, events, research, and more!

• #2 Congenital Adrenal Hyperplasia Clinic | Children’s Hospital Los Angeles

  https://www.chla.org/center-endocrinology-diabetes-and-metabolism/programs-and-services/congenital-adrenal-hyperplasia-clinic

  Families who choose the CAH Clinic at Childrens Hospital Los Angeles benefit from: […] We run support groups and offer opportunities for you to connect with families who have children with similar diagnoses. […] When babies receive a CAH diagnosis, we provide extensive CAH education for caregivers. […] We actively work on identifying adult providers who have a special interest in CAH. […] Our comprehensive treatment team includes the expertise of: […] Treatment plans might include medication, weight management or psychological support.

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

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

  Living with Congenital Adrenal Hyperplasia (CAH) requires a comprehensive and continuous care plan that addresses both the physical and psychological aspects of the disorder. The cornerstone of CAH management is hormone replacement therapy, which compensates for the adrenal glands’ inability to produce essential hormones. This therapy must be carefully managed and adjusted, particularly during periods of stress or illness, to prevent life-threatening adrenal crises. Surgical interventions may be necessary for some individuals, particularly females with ambiguous genitalia, to improve function and appearance. Mental health support is equally important, as it helps individuals and families cope with the emotional and social challenges associated with CAH. Regular monitoring through physical exams and blood tests ensures that treatment remains effective and that any complications are promptly addressed. Participation in clinical trials offers hope for new and improved treatments, potentially reducing the need for lifelong medication. With early detection and a dedicated healthcare team, individuals with CAH can enjoy a good quality of life, participating fully in educational, social, and professional activities.

• #2 Congenital Adrenal Hyperplasia in Adults: Essential Care Tips

  https://www.rupahealth.com/post/congenital-adrenal-hyperplasia-in-adults-essential-care-tips

  CAH can impact sexual function and fertility due to excess androgens or other hormonal imbalances. […] Adults with CAH often experience mental health issues such as body image concerns, stress, anxiety, and depression. […] Counseling, support groups, and peer networks are important resources for managing the emotional impact of CAH. […] Building resilience is key to coping with CAH’s daily demands.

• #2 AGEING WITH CONGENITAL ADRENAL HYPERPLASIA | Society for Endocrinology

  https://www.endocrinology.org/endocrinologist/142-winter-2021/features/ageing-with-congenital-adrenal-hyperplasia/

  With the right support, we can manage much of our own care ourselves. […] We need a new dialogue in which we are not seen as having a disease, being disordered or in need of fixing, a dialogue that recognises the pride in the difference that girls and women with CAH have, so that we can embrace all parts of ourselves without shame and secrecy, and thus start the process of healing and ultimately true self-care and love.

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

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

  Mental health support is a vital component of CAH management. It helps address the social and emotional challenges associated with the condition. Engaging with mental health professionals can significantly improve the quality of life for both children and adults with CAH. This support is often provided by a multidisciplinary team that includes psychologists and social workers. […] Regular checkups are essential to ensure the effectiveness of the treatment plan. Healthcare providers conduct physical exams and blood tests to monitor hormone levels and adjust medications as needed. Wearing a medical identification bracelet or necklace is recommended for individuals with classic CAH to ensure appropriate care in emergencies. […] With early detection and appropriate treatment, individuals with CAH can lead healthy, productive lives. They can participate fully in school activities, sports, and social events. Women with CAH can have regular menstrual cycles and children, while men maintain normal fertility. Continuous care from an endocrinologist and adherence to medication regimens are crucial for maintaining health and well-being.

• #2 Congenital Adrenal Hyperplasia (CAH)

  https://www.cookchildrens.org/services/urology/specialty-programs/congenital-adrenal-hyperplasia/

  When your child is diagnosed with a rare condition, you want to find the pediatric team with the knowledge and experience necessary to provide your child with the best possible outcome. Cook Children’s Congenital Adrenal Hyperplasia program is made up of specialists whose training and years of practice have made them recognized experts in the care of children from birth through adolescence with this condition. […] Our Behavioral Health specialists also provide ongoing support for parents, patients and families to help them cope with the impacts of CAH, and ensure positive outcomes for your child, now and in the future. […] Our team services 10 different satellite clinics, including Fort Worth, Abilene, Amarillo, Denton, Hurst, Lewisville, Midland, San Angelo, Tyler, Waco. For patients who attend the outlying clinics we have the availability of telemedicine and we offer our patients the opportunity to see their local Cook Children’s endocrinologist in the satellite clinic. Once per year, patients come to the congenital adrenal hyperplasia clinic in Fort Worth for a fine tuning of the program and for education and meeting with other families.

• #2 Center for Congenital Adrenal Hyperplasia (CAH) and Disorders of Sex Development (DSD) | Medical School

  https://med.umn.edu/pediatrics/about/programs-centers-institutes/cah-dsd

  The Center for Congenital Adrenal Hyperplasia (CAH) and Disorders of Sex Development (DSD), is a multidisciplinary clinical care and research facility that is built upon a unique collaboration between healthcare professionals at the M Health Fairview Masonic Children’s Hospital and the Minnesota Department of Health Newborn Screening program (MDH-NBS). […] The Center also serves as a resource for educational materials geared toward patients, parents and primary care providers. […] A typical visit may include one-on-one consultations with the following specialists: Pediatric Endocrinologist/Geneticist for evaluation/diagnosis of disorder; monitoring of disease control, growth, puberty, and other concerns; treatment options; and provide medical information about the disorder. […] Nurse Practitioner who will explain and initiate the Emergency Medical Plan (including web based plan for physicians at other hospitals in case of emergency); provide additional material about the disorder and discuss any other concerns the patient or parent may have. […] The patient and family receive a comprehensive clinic report, which includes recommendations of all of the specialists and health care professionals who saw the patient and family at the center.

• #2 Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

  https://www.e-cep.org/journal/view.php?doi=10.3345/kjp.2017.60.2.31

  Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. […] Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers. […] Therefore, the safe transition of adolescents to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric and adult endocrinologists. […] The major goals for management of adults with 21-hydroxylase deficiency are to minimize the long-term complications of glucocorticoid therapy, reduce hyperandrogenism, prevent adrenal or testicular adrenal rest tumors, maintain fertility, and improve quality of life. […] Successful transition from pediatric to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric endocrinologists, urologists, gynecologists, psychiatrists, and adult endocrinologists.

• #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

  The exact dose of these medications needs to be adjusted as the child grows and matures. […] Infants and children with CAH need to be followed closely by a specialist in pediatric endocrinology to prevent complications of the disease and to assure optimal growth and maturation. […] 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.

• #2 Congenital Adrenal Hyperplasia – Symptoms, Diagnosis, Treatmentphone iconGroup 9phone iconGroup 49

  https://www.barrowneuro.org/condition/congenital-adrenal-hyperplasia/

  Congenital adrenal hyperplasia (CAH) is a group of inherited genetic disorders affecting the adrenal glands on top of the kidneys. It causes imbalances in hormonal production, resulting in low levels of cortisol and aldosterone and high levels of androgens. […] Treatment for CAH will depend on whether you or your loved one have a classic or nonclassic CAH diagnosis. While there is no cure for either, lifelong management with medications and, in a small percentage of cases, surgery can help control symptoms and prevent complications. […] Nonsurgical treatment for congenital adrenal hyperplasia usually involves lifelong hormone replacement therapy with glucocorticoids to replenish the low cortisol and, in some cases, aldosterone as well. […] With proper treatment and care, most people with CAH can lead normal, active lives. Consistent lifelong monitoring will be vital to take stock of hormone levels and adjust as needed, as well as to prevent future complications like osteoporosis and cardiovascular disease. Mental, emotional, and social support may also be required for those dealing with fertility issues or body image changes as a result of CAH.

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