Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency

Publication Date: September 27, 2018

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

...agnosi...

...rn Screening

...crine Society (ES) recommends that a...

...mends that first-tier screens use 17-...

...mmends that screening laboratories employ a se...


...s of Congenital Adrenal Hyperplasia...

...positive newborn screens for congenital adre...

...individuals past infancy, ES recommend...

...als with borderline 17-hydroxyprogestero...

...als with congenital adrenal hyperplasia, E...

.... Fetal Adrenal Steroidogenesis...

Table 1. Comparative Incidence of Classic CAH...

...2. Diagnosis of 21OH...


Treatment

...atment...

...Treatment of Congenital Adrenal Hyperplasia...

...S advises that clinicians continue...

...men at risk for carrying a fetus affecte...

...t research protocols for prenatal therapy include...


...eatment of Classic Congenital Adrenal Hyp...

...wing individuals with classic congenital...

...growing individuals with congenital adrenal hy...

...and in early infancy, ES recommends ad...

...with classic congenital adrenal hyper...

...viduals with classic congenital adr...

...als with classic congenital adrenal...


Stress Do...

In all patients with congenital adrenal hyperpl...

...patients with congenital adrenal hyperp...

...tients with congenital adrenal hyperplasia who req...

...congenital adrenal hyperplasia, ES recomme...

...mends equipping every patient with congenital ad...


...toring Therapy...

...atients ≤18 months with congenital adrenal...

...iatric patients with congenital ad...

...ients with congenital adrenal hyperplasi...

...ongenital adrenal hyperplasia, ES recommends an...

...adults with congenital adrenal hyperplasia, E...

...congenital adrenal hyperplasia, ES recommen...


...Nonclassic Congenital Adrenal Hyperplas...

...ren and adolescents with inappropri...

...ymptomatic nonpregnant individuals with non...

...ly treated patients with nonclassic...

...n adult women with nonclassic congenital...

...ult males with nonclassic congenital adrenal...

...th nonclassic congenital adrenal hype...


Long-Term Management of Patients With Congenital Adrenal Hyperplasia

...-Term Management of Patients With Congenital...

...sition to Adult Care

...adolescent patients with congenital adrenal hyperp...

...dolescent females with congenital adrenal hyperpl...


...enetic Counsel...

...ldren with congenital adrenal hyperpla...


...rtility Counselin...

...s with congenital adrenal hyperplasia and impaired...


...of Congenital Adrenal Hyperplasia and Nonclas...

...omen with nonclassic congenital adre...

In women with congenital adrenal hyperplasia...

...n women with congenital adrenal hype...

...women with congenital adrenal hyperpla...

...with congenital adrenal hyperplasia who a...


...r Long-Term Complications of Congenital Adre...

...nts with congenital adrenal hyperpla...

...dult patients with congenital adren...

...lts with classic congenital adrenal hyper...

...es with classic congenital adrenal hyp...

...patients with congenital adrenal hyperp...


...ng Functional Anatomy By Surgery in...

...patients with congenital adrenal hyperplasia,...

...irilized females, ES advises discussion about earl...

...e treatment of minors with congeni...

...patients with congenital adrenal hyperplasia...


Experimental Therapies and Future Directions

...Therapies and Future Directions...

...nsiderations and Unmet Clinical Nee...

...tients with congenital adrenal hyperpla...


...enalectomy...

...ts with congenital adrenal hyperplasia, ES su...


...ental Heal...

...individuals with congenital adrenal hyperp...


...ntenance Therapy in Growing Patients with CAHH...


...aintenance Therapy Suggested in Fully Gr...


...ggested Stress Doses of GC for Adrenal Crisis...


...le 5. Utility of Various Analytes f...


...3. Lower Urogenital Anatomy of Mild...


...Partial Urogenital Mobilization with Sep...