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
Diagnosi...
...rn Screening...
...ne Society (ES) recommends that all n...
...that first-tier screens use 17-hydroxyprogestero...
...mends that screening laboratories emplo...
...iagnosis of Congenital Adrena...
...ts with positive newborn screens for cong...
...tomatic individuals past infancy, ES re...
...with borderline 17-hydroxyprogesterone level...
...viduals with congenital adrenal hyperpl...
...al Adrenal Steroidogenesis...
...ble 1. Comparative Incidence of Classic...
Figure 2. Diagnosis of 21OHD
Treatment
...reatmen...
Prenatal Treatment of Congenital Adrena...
...S advises that clinicians continue to regard pren...
...omen at risk for carrying a fetus affect...
...at research protocols for prenatal the...
...f Classic Congenital Adrenal Hyperpl...
...individuals with classic congenital adre...
...iduals with congenital adrenal hyperpla...
...he newborn and in early infancy, ES recomme...
...ith classic congenital adrenal hyperplas...
...als with classic congenital adrenal hyperp...
...als with classic congenital adrenal hyperplasia,...
...ss Dosing...
...nts with congenital adrenal hyperplasi...
...ith congenital adrenal hyperplasia under ev...
...th congenital adrenal hyperplasia who r...
...ith congenital adrenal hyperplasia, ES...
ES recommends equipping every patient...
...ring Therapy...
...nts ≤18 months with congenital a...
...ic patients with congenital adrenal hyperplasia, E...
...iatric patients with congenital adrenal hyperpla...
...congenital adrenal hyperplasia, ES recommends...
...s with congenital adrenal hyperplasia, ES recomm...
...s with congenital adrenal hyperplasia,...
...nclassic Congenital Adrenal Hyperplasia...
...ildren and adolescents with inappropriately...
...tomatic nonpregnant individuals with non...
...usly treated patients with nonclassic congen...
...women with nonclassic congenital adrenal...
...lt males with nonclassic congenital adrenal hype...
...nts with nonclassic congenital adrenal hyperp...
Long-Term Management of Patients With Congenital Adrenal Hyperplasia
...gement of Patients With Congenital Adr...
...ansition to Adult Care
...atients with congenital adrenal hyperplasi...
...adolescent females with congenital adr...
...enetic Counseling
...n children with congenital adrenal hyperp...
...ity Counseling
...ndividuals with congenital adrenal hyperpl...
...ngenital Adrenal Hyperplasia and Nonclas...
...onclassic congenital adrenal hyper...
...congenital adrenal hyperplasia who are p...
...ngenital adrenal hyperplasia who become preg...
...congenital adrenal hyperplasia who...
...ngenital adrenal hyperplasia who are pregnant,...
...eillance for Long-Term Complications of Conge...
...nts with congenital adrenal hyperplasia, ES...
...adult patients with congenital adrenal hyperp...
...dults with classic congenital adrenal hyperplasia...
...les with classic congenital adrenal hyp...
...with congenital adrenal hyperplasia, ES recomme...
...Functional Anatomy By Surgery in Individuals Wit...
...ediatric patients with congenital adrenal hyperp...
...rely virilized females, ES advises discussion a...
...he treatment of minors with congenital adrenal...
...patients with congenital adrenal hyperpl...
Experimental Therapies and Future Directions
...erimental Therapies and Future Direct...
...eral Considerations and Unmet Cli...
...h congenital adrenal hyperplasia, ES advi...
...nalectomy...
...nts with congenital adrenal hyperplasia...
...tal Healt...
...r individuals with congenital adrenal hyperp...
...ble 2. Maintenance Therapy in Growing Patients...
...ntenance Therapy Suggested in Fully Grown Pati...
...ggested Stress Doses of GC for Adrenal CrisisHav...
...Utility of Various Analytes for Mon...
...Urogenital Anatomy of Mild and Severe CAH(a a...
...l Urogenital Mobilization with Separation of th...