title: Diagnosis and management of classical congenital adrenal hyperplasia.
abstract: Congenital adrenal hyperplasia (CAH) is among the most common genetic disorders. Deficiency of adrenal steroid 21-hydroxylase deficiency due to mutations in the CYP21A2 gene accounts for about 95% cases of CAH. This disorder manifests with androgen excess with or without salt wasting. It also is a potentially life threatening disorder; neonatal screening with 17-hydroxyprogesterone measurement can diagnose the condition in asymptomatic children. Carefully monitored therapy with glucocorticoid and mineralocorticoid supplementation will ensure optimal growth and development for children with CAH. Genital surgery may be required for girls with CAH. Continued care is required for individuals with CAH as adults to prevent long-term adverse consequences of the disease, including infertility, metabolic syndrome and osteoporosis.
authors.affiliation: Department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Eunice
authors.initials: E
authors.lastname: Marumudi
authors.forename: Rajesh
authors.initials: R
authors.lastname: Khadgawat
authors.forename: Vineet
authors.initials: V
authors.lastname: Surana
authors.forename: Iram
authors.initials: I
authors.lastname: Shabir
authors.forename: Angela
authors.initials: A
authors.lastname: Joseph
authors.forename: Ariachery C
authors.initials: AC
authors.lastname: Ammini
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D000328:Adult; D005260:Female; D005298:Fertility / Q000187:drug effects; D005438:Fludrocortisone / Q000627:therapeutic use; D005835:Genitalia / Q000601:surgery; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D016896:Treatment Outcome
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase; D005438:Fludrocortisone; D006854:Hydrocortisone