Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency
Key Points
Key Points
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
...agnosi...
...born Screeni...
...ty (ES) recommends that all newborn screening pro...
...recommends that first-tier screens use...
...recommends that screening laboratori...
...Congenital Adrenal Hyperplasia
...with positive newborn screens for...
...symptomatic individuals past infancy, E...
...uals with borderline 17-hydroxyprogestero...
...viduals with congenital adrenal hype...
...gure 1. Fetal Adrenal Steroidogenes...
...Comparative Incidence of Classic CAH in Diff...
...gure 2. Diagnosis of 21O...
Treatment
...eatment...
...natal Treatment of Congenital Adrenal Hyp...
...es that clinicians continue to regard prenatal...
...pregnant women at risk for carrying a fetus a...
...ses that research protocols for prenat...
...eatment of Classic Congenital Adrenal Hyperp...
In growing individuals with classic congenita...
...ng individuals with congenital adrenal hyp...
...ewborn and in early infancy, ES recommen...
...dults with classic congenital adrenal h...
...n all individuals with classic congenital...
...ividuals with classic congenital adrenal hyperpla...
...ss Dosing
...all patients with congenital adrena...
...congenital adrenal hyperplasia unde...
...atients with congenital adrenal hyperplasi...
...nts with congenital adrenal hyperplasia, ES rec...
...nds equipping every patient with congenital adre...
...oring Therapy...
...‰¤18 months with congenital adrenal hyperplas...
...ients with congenital adrenal hyperplasia, ES rec...
...n pediatric patients with congenital...
...dults with congenital adrenal hyperplasia...
...congenital adrenal hyperplasia, ES r...
...h congenital adrenal hyperplasia, ES re...
...tment of Nonclassic Congenital Adrenal Hyperplasi...
...and adolescents with inappropriately early...
...matic nonpregnant individuals with nonclass...
...reated patients with nonclassic congenit...
...with nonclassic congenital adrenal h...
...ost adult males with nonclassic congenital adre...
...th nonclassic congenital adrenal hyp...
Long-Term Management of Patients With Congenital Adrenal Hyperplasia
...nagement of Patients With Congenital Adrenal...
Transition to Adu...
...t patients with congenital adrenal hyperplasia...
...scent females with congenital adrenal h...
...c Counseling...
...ith congenital adrenal hyperplasia, adole...
...lity Counselin...
...als with congenital adrenal hyperplasia and...
...ent of Congenital Adrenal Hyperplasia and Nonc...
...women with nonclassic congenital adrenal hyperpla...
...h congenital adrenal hyperplasia who are pre...
...with congenital adrenal hyperplasia who beco...
...en with congenital adrenal hyperpl...
...omen with congenital adrenal hyperplasia who a...
...for Long-Term Complications of Congenital...
...s with congenital adrenal hyperplasia, ES...
...ents with congenital adrenal hyperplasia, ES sug...
...s with classic congenital adrenal hyperplasia,...
...males with classic congenital adrenal hyperpl...
...ith congenital adrenal hyperplasia, E...
...ional Anatomy By Surgery in Individuals W...
...iatric patients with congenital adrenal...
...verely virilized females, ES advises discussion a...
...ent of minors with congenital adrenal h...
...ts with congenital adrenal hyperplasia...
Experimental Therapies and Future Directions
...perimental Therapies and Futur...
...al Considerations and Unmet Clinical...
...h congenital adrenal hyperplasia, ES advises...
...renalecto...
...congenital adrenal hyperplasia, ES...
...al Health
For individuals with congenital adrenal hyperpla...
...intenance Therapy in Growing Patie...
...Maintenance Therapy Suggested in F...
...sted Stress Doses of GC for Adrenal CrisisHavin...
...y of Various Analytes for Monitoring C...
...ure 3. Lower Urogenital Anatomy of Mild and...
Figure 4. Partial Urogenital Mobiliz...