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
...gnosis...
...orn Screening...
...rine Society (ES) recommends that all newbor...
...nds that first-tier screens use 17-hydroxyprog...
...ecommends that screening laborator...
...f Congenital Adrenal Hyperplasia...
...nts with positive newborn screens for congenita...
...mptomatic individuals past infancy, ES recommen...
...als with borderline 17-hydroxyprogesterone levels...
...ith congenital adrenal hyperplasia, ES suggests...
...ure 1. Fetal Adrenal Steroido...
...ative Incidence of Classic CAH in Different...
...gure 2. Diagnosis o...
Treatment
...reatment
...renatal Treatment of Congenital Adrenal Hy...
...ises that clinicians continue to regard pr...
...t women at risk for carrying a fetus...
...advises that research protocols for prenat...
...eatment of Classic Congenital Adrenal Hy...
...individuals with classic congenital a...
...individuals with congenital adrenal hyperplasia,...
...born and in early infancy, ES recomm...
...dults with classic congenital adrenal hyperplasia...
...viduals with classic congenital adrenal hyperp...
...ividuals with classic congenital adren...
...ess Dosing...
...ients with congenital adrenal hyperp...
...tients with congenital adrenal hyperpl...
...patients with congenital adrenal...
...ents with congenital adrenal hyperplasia...
...ds equipping every patient with congeni...
...toring Therapy
...≤18 months with congenital adrenal hy...
...atients with congenital adrenal hyperpl...
...pediatric patients with congenital adrenal hype...
In adults with congenital adrenal h...
...adults with congenital adrenal hyperplasi...
...ith congenital adrenal hyperplasia,...
...of Nonclassic Congenital Adrenal H...
In children and adolescents with inapp...
...asymptomatic nonpregnant individuals with nonclass...
...previously treated patients with non...
...en with nonclassic congenital adrenal hyperplasi...
...t adult males with nonclassic congen...
In patients with nonclassic congenital adrenal h...
Long-Term Management of Patients With Congenital Adrenal Hyperplasia
...ong-Term Management of Patients With Congenital...
...sition to Adult Care...
...patients with congenital adrenal hyperplasia...
...females with congenital adrenal hyperplasia, E...
...c Counseling...
...h congenital adrenal hyperplasia, adolescents tran...
Fertility Counse...
In individuals with congenital adrenal hyper...
...nagement of Congenital Adrenal Hyperplas...
...omen with nonclassic congenital ad...
In women with congenital adrenal h...
...en with congenital adrenal hyperplasia...
...women with congenital adrenal hyperpl...
...h congenital adrenal hyperplasia who...
...ance for Long-Term Complications of Co...
...patients with congenital adrenal...
...ents with congenital adrenal hyperplasia,...
...h classic congenital adrenal hyperp...
...lassic congenital adrenal hyperplasia, ES re...
...n patients with congenital adrenal hyperplasia...
...ng Functional Anatomy By Surgery in Individuals...
...tric patients with congenital adrenal hype...
...lized females, ES advises discussion about e...
...reatment of minors with congenital adre...
...patients with congenital adrenal hyperplasia...
Experimental Therapies and Future Directions
...imental Therapies and Future Directi...
...erations and Unmet Clinical Needs...
In patients with congenital adrenal hyperp...
...enalectomy...
...ith congenital adrenal hyperplasia, ES sug...
...al Health...
...r individuals with congenital adrena...
...2. Maintenance Therapy in Growing...
Table 3. Maintenance Therapy Suggested in Fully G...
...uggested Stress Doses of GC for Ad...
.... Utility of Various Analytes for Monitoring...
...ure 3. Lower Urogenital Anatomy of Mi...
...Partial Urogenital Mobilization with Separa...