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
...Diagnosis
...Newborn Screeni...
...crine Society (ES) recommends that all newb...
...recommends that first-tier screens use 17-hydroxyp...
...ecommends that screening laboratories employ...
...Diag...
...ith positive newborn screens for congenital adren...
...c individuals past infancy, ES reco...
...duals with borderline 17-hydroxyprogesterone...
...individuals with congenital adrena...
...al Adrenal Steroidogenesis...
...e 1. Comparative Incidence of Classic CAH...
...re 2. Diagnosis of 21OHD...
Treatment
...Treatmen...
...Prenata...
...advises that clinicians continue to regard prenata...
...egnant women at risk for carrying a...
...vises that research protocols for prenat...
...Treatment of...
...individuals with classic congenital adrenal h...
...wing individuals with congenital adrenal hyper...
...born and in early infancy, ES recommends add...
...ith classic congenital adrenal hyperplasia, ES...
...all individuals with classic congenital adrenal...
...als with classic congenital adrenal hy...
...Stress Dosing...
...all patients with congenital adrenal hyperpla...
...patients with congenital adrenal hyperplasia un...
...congenital adrenal hyperplasia who requi...
...atients with congenital adrenal hyperplasia,...
...ecommends equipping every patient w...
...≤18 months with congenital adrenal hyperplasia,...
...atric patients with congenital adre...
...pediatric patients with congenital adre...
...adults with congenital adrenal hyperplasia, ES r...
...congenital adrenal hyperplasia, ES recommends mo...
...with congenital adrenal hyperplasia, ES recomm...
...Treatment of...
...adolescents with inappropriately early onset and r...
...omatic nonpregnant individuals with nonclassic...
...previously treated patients with non...
...ith nonclassic congenital adrenal hyperplasia...
...adult males with nonclassic congenital...
...th nonclassic congenital adrenal hyperplas...
Long-Term Management of Patients With Congenital Adrenal Hyperplasia
...Long-Term Manage...
...Transiti...
...adolescent patients with congenital ad...
...dolescent females with congenital adrenal...
...Gen...
...dren with congenital adrenal hyperplasia, adoles...
...Fer...
...with congenital adrenal hyperplasia and impaire...
...Management of...
...women with nonclassic congenital adrena...
...th congenital adrenal hyperplasia who are pre...
...ngenital adrenal hyperplasia who bec...
...ngenital adrenal hyperplasia who are pr...
...n women with congenital adrenal hyperplas...
...S...
...ts with congenital adrenal hyperplasia, ES s...
...s with congenital adrenal hyperplasia,...
...th classic congenital adrenal hyperplasia, ES...
...s with classic congenital adrenal hype...
...ith congenital adrenal hyperplasia, ES reco...
...Restoring Funct...
...l pediatric patients with congenital adre...
...virilized females, ES advises discussion about...
...ment of minors with congenital adrenal...
...ents with congenital adrenal hyperplasi...
Experimental Therapies and Future Directions
...Experimental Therap...
...General Considerations an...
...th congenital adrenal hyperplasia, ES advises aga...
...Adrena...
...ts with congenital adrenal hyperpl...
...Mental Healt...
...ividuals with congenital adrenal hyperplasia...
...aintenance Therapy in Growing Patients wi...
...ntenance Therapy Suggested in Fully Grown Patien...
...4. Suggested Stress Doses of GC for Adrenal Crisis...
...lity of Various Analytes for Monitoring CAH...
...re 3. Lower Urogenital Anatomy of Mi...
...ial Urogenital Mobilization with Sep...