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 Screening...
...iety (ES) recommends that all newborn screening p...
...that first-tier screens use 17-hydroxyprogeste...
...S recommends that screening laboratories emp...
...Diagnosi...
...nfants with positive newborn screens for co...
In symptomatic individuals past infanc...
In individuals with borderline 17-hydroxypro...
In individuals with congenital adre...
...1. Fetal Adrenal Steroidogenesis...
...omparative Incidence of Classic CAH in Differ...
...Diagnosis of 21OHD...
Treatment
...Treatment...
...Prenatal...
...advises that clinicians continue to regard p...
In pregnant women at risk for carryi...
...dvises that research protocols for prenatal...
...Treatment of...
...owing individuals with classic congenital adren...
...ing individuals with congenital adrenal hyperplas...
...born and in early infancy, ES recommend...
...lassic congenital adrenal hyperplasia,...
...individuals with classic congenital adrenal h...
...als with classic congenital adrenal hype...
...Stre...
...atients with congenital adrenal hy...
...nts with congenital adrenal hyperplasia u...
...with congenital adrenal hyperplasia who...
...ents with congenital adrenal hyperplasi...
ES recommends equipping every patient wit...
...Monitor...
...ents ≤18 months with congenital adrenal...
...patients with congenital adrenal hyp...
...iatric patients with congenital adrena...
...with congenital adrenal hyperplasia, ES recommen...
...n adults with congenital adrenal hyperpl...
In adults with congenital adrenal hyperplas...
...Treatment...
...nd adolescents with inappropriately early onse...
...ymptomatic nonpregnant individuals with nonc...
...n previously treated patients with noncla...
...t women with nonclassic congenital...
...ales with nonclassic congenital adrenal hyperpla...
...patients with nonclassic congenital adrena...
Long-Term Management of Patients With Congenital Adrenal Hyperplasia
...Long-Term Manag...
...Transition to...
...adolescent patients with congenital adren...
...females with congenital adrenal hyp...
...Genetic Counseling...
...en with congenital adrenal hyperplasia, adolescent...
...Fertility Counseling...
...s with congenital adrenal hyperplasia and impaired...
...Management of Congenital...
...nonclassic congenital adrenal hyperplasia who are...
...en with congenital adrenal hyperplasia w...
...th congenital adrenal hyperplasia who...
...th congenital adrenal hyperplasia who are pregna...
...congenital adrenal hyperplasia who are pregnant...
...Surveillan...
...s with congenital adrenal hyperplas...
...ts with congenital adrenal hyperpla...
...ith classic congenital adrenal hyperp...
...th classic congenital adrenal hyperplasia, ES re...
...with congenital adrenal hyperplasia, ES recommen...
...Resto...
...pediatric patients with congenital adrenal hyp...
...ly virilized females, ES advises discussion abo...
...of minors with congenital adrenal hyperpl...
...patients with congenital adrenal hyper...
Experimental Therapies and Future Directions
...Experime...
...General Consi...
...congenital adrenal hyperplasia, ES advises again...
...Adrenalectomy...
...with congenital adrenal hyperplasia, ES sugg...
...Mental Healt...
...with congenital adrenal hyperplasia and the...
...aintenance Therapy in Growing Patients wit...
...nance Therapy Suggested in Fully Grown Patients...
...ted Stress Doses of GC for Adrenal Crisis...
...ity of Various Analytes for Monitorin...
...Lower Urogenital Anatomy of Mild and Severe C...
...4. Partial Urogenital Mobilization with Separ...