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...
...iety (ES) recommends that all newborn...
...hat first-tier screens use 17-hydroxyproge...
...at screening laboratories employ a...
...is of Congenital Adrenal Hype...
...infants with positive newborn screens for...
...symptomatic individuals past infancy, ES rec...
...ndividuals with borderline 17-hydroxyprog...
...individuals with congenital adrenal hy...
...re 1. Fetal Adrenal Steroido...
...1. Comparative Incidence of Classic CAH in...
...Diagnosis of 21OHD...
Treatment
...reatment...
...ment of Congenital Adrenal Hyperplasia...
...advises that clinicians continue to re...
In pregnant women at risk for carrying a...
...es that research protocols for pre...
...f Classic Congenital Adrenal Hyperplasia...
...individuals with classic congenital adrenal...
...dividuals with congenital adrenal hype...
...and in early infancy, ES recommends adding fludr...
...with classic congenital adrenal h...
...uals with classic congenital adren...
...duals with classic congenital adrenal hyperplas...
...ss Dosing
...tients with congenital adrenal hyperplasia who req...
...ents with congenital adrenal hyperplasia under ev...
...ients with congenital adrenal hyperplasia who...
...with congenital adrenal hyperplasia, ES recommen...
...recommends equipping every patient with conge...
...itoring Thera...
...tients ≤18 months with congenital adr...
...ic patients with congenital adrenal hyperplasi...
...tric patients with congenital adrenal hy...
In adults with congenital adrenal h...
...adults with congenital adrenal hyperp...
...ts with congenital adrenal hyperplas...
...Nonclassic Congenital Adrenal Hyperplasia...
...dren and adolescents with inappropriatel...
...ymptomatic nonpregnant individuals with nonclas...
...y treated patients with nonclassic congen...
...lt women with nonclassic congenital adr...
...adult males with nonclassic congenital adrena...
...nts with nonclassic congenital adrenal hype...
Long-Term Management of Patients With Congenital Adrenal Hyperplasia
Long-Term Management of Patients With...
...on to Adult Care...
...ent patients with congenital adrenal hy...
...females with congenital adrenal hy...
...netic Counseli...
...with congenital adrenal hyperplasia, adolesc...
Fertility Counsel...
In individuals with congenital adrenal hyper...
...t of Congenital Adrenal Hyperplasia and Nonclas...
In women with nonclassic congenital adrenal...
...congenital adrenal hyperplasia who a...
...congenital adrenal hyperplasia who b...
...n with congenital adrenal hyperplasia who are preg...
...with congenital adrenal hyperplasia who...
...urveillance for Long-Term Complications of Congeni...
...s with congenital adrenal hyperplasia, ES sugg...
...dult patients with congenital adrenal hyp...
...classic congenital adrenal hyperplasia,...
...ales with classic congenital adrenal hyperplasia...
...congenital adrenal hyperplasia, ES re...
...storing Functional Anatomy By Surge...
...pediatric patients with congenital adrenal hype...
...n severely virilized females, ES advises di...
...tment of minors with congenital adrenal...
...atients with congenital adrenal hyperpl...
Experimental Therapies and Future Directions
Experimental Therapies and Future Direc...
...onsiderations and Unmet Clinical Needs...
...tients with congenital adrenal hyperplasia,...
...enalectomy...
...ients with congenital adrenal hyperp...
Mental Hea...
...uals with congenital adrenal hyperplasia and...
Table 2. Maintenance Therapy in Gr...
...nance Therapy Suggested in Fully Grown Pa...
Table 4. Suggested Stress Doses of GC for Adrena...
...ble 5. Utility of Various Analytes for Moni...
...r Urogenital Anatomy of Mild and Severe CAH(a...
...igure 4. Partial Urogenital Mobili...