Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency
Key Points
Key Points
- 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.
- 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.
Diagnosis
...agnosis...
...orn Screenin...
...Society (ES) recommends that all...
...commends that first-tier screens use...
...that screening laboratories employ...
...ongenital Adrenal Hyperplasia...
...with positive newborn screens for co...
In symptomatic individuals past infancy, ES recomm...
...als with borderline 17-hydroxyprogestero...
...with congenital adrenal hyperplasia, ES suggests g...
...1. Fetal Adrenal Steroidogenesis...
...ative Incidence of Classic CAH in Different...
Figure 2. Diagnosis of 21O...
Treatment
Treatm...
...al Treatment of Congenital Adrenal Hy...
...hat clinicians continue to regard prena...
...gnant women at risk for carrying a fetus affected...
...at research protocols for prenatal thera...
...f Classic Congenital Adrenal Hyperp...
...rowing individuals with classic congeni...
...g individuals with congenital adrenal hyperpla...
...the newborn and in early infancy, ES recom...
...adults with classic congenital adr...
...iduals with classic congenital adrenal...
...duals with classic congenital adrenal hyperplasia...
...ress Dosing...
...ll patients with congenital adrenal hyp...
...ts with congenital adrenal hyperplasia under...
...patients with congenital adrenal hyperplasia who...
...th congenital adrenal hyperplasia, ES r...
...ecommends equipping every patient with cong...
...itoring Ther...
...patients ≤18 months with congenital adrenal hy...
...tients with congenital adrenal hyperplasia, ES re...
...n pediatric patients with congenital adrena...
...s with congenital adrenal hyperplasia, E...
...th congenital adrenal hyperplasia, ES rec...
...s with congenital adrenal hyperplasia, ES...
...eatment of Nonclassic Congenital Adrena...
In children and adolescents with inap...
...tomatic nonpregnant individuals with nonclassi...
In previously treated patients with nonclassic c...
In adult women with nonclassic congenital...
...adult males with nonclassic congenital adre...
...with nonclassic congenital adrenal hyperplasia,...
Long-Term Management of Patients With Congenital Adrenal Hyperplasia
...anagement of Patients With Congenital A...
...sition to Adult Ca...
...adolescent patients with congenital adrenal hype...
...dolescent females with congenital a...
...c Counseling
...ren with congenital adrenal hyperplasia, a...
...ity Counseling
...s with congenital adrenal hyperpla...
Management of Congenital Adrenal H...
...omen with nonclassic congenital adrenal...
...en with congenital adrenal hyperplasia...
...congenital adrenal hyperplasia who...
...congenital adrenal hyperplasia wh...
...ngenital adrenal hyperplasia who are pregna...
...illance for Long-Term Complications of Co...
...th congenital adrenal hyperplasia, ES sugg...
...tients with congenital adrenal hyperpla...
...th classic congenital adrenal hyperplasia,...
...ith classic congenital adrenal hyp...
...patients with congenital adrenal hyper...
...ional Anatomy By Surgery in Individuals With...
...pediatric patients with congenital...
...verely virilized females, ES advises discussion ab...
...he treatment of minors with congeni...
...female patients with congenital adrenal...
Experimental Therapies and Future Directions
Experimental Therapies and Future...
...eneral Considerations and Unmet Clini...
...h congenital adrenal hyperplasia, ES advises...
...drenalect...
...n patients with congenital adrenal hyperplas...
Mental Heal...
For individuals with congenital adrenal hyperplas...
...Maintenance Therapy in Growing Patients with C...
...3. Maintenance Therapy Suggested in Fully Grown Pa...
...gested Stress Doses of GC for Adrenal C...
...lity of Various Analytes for Monitoring CAH Treat...
...Urogenital Anatomy of Mild and Severe CAH...
...artial Urogenital Mobilization with Separa...