Prenatal and neonatal diagnosis and treatment of congenital adrenal hyperplasia.
BACKGROUND
Clinical management of patients with congenital adrenal hyperplasia (CAH) involves treating hormonal deficiencies, addressing issues related to genital ambiguity, avoiding morbidities and communicating with the family about risk of CAH in other members. This article briefly reviews the prenatal and neonatal diagnosis of CAH caused by steroid 21-hydroxylase deficiency, as well as treatment options and neonatal screening approaches.


CONCLUSIONS
Screening for CAH can reduce adrenal crises, avoid incorrect sex assignments, lower mortality (especially in males) and avoid inappropriate somatic growth and precocious puberty.
Speiser
Phyllis W
PW
Pediatric Endocrinology, Schneider Children's Hospital, New York University, New Hyde Park, NY 11040, USA. pspeiser@lij.edu
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000628:therapy*; D003907:Dexamethasone / Q000627:therapeutic use; D003940:Diagnostic Techniques, Endocrine; D005835:Genitalia / Q000187:drug effects / Q000196:embryology; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D011295:Prenatal Care; D011296:Prenatal Diagnosis
D005938:Glucocorticoids; D003907:Dexamethasone