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Clinical aspects of congenital adrenal hyperplasia: Early diagnosis and prognosis
Author(s) -
Hughes I. A.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800865
Subject(s) - virilization , congenital adrenal hyperplasia , medicine , hyperplasia , presentation (obstetrics) , pediatrics , pathology , surgery , hormone , androgen
The neonatal presentation of congenital adrenal hyperplasia is either virilization of females or salt loss in both sexes. Early diagnosis is based on the rapid measurement of plasma 17α‐hydroxyprogesterone. Milder forms of congenital adrenal hyperplasia can present later in life with abnormalities of somatic or sexual development. The majority of cases of congenital adrenal hyperplasia are clinically diagnosable in the first 2–3 weeks of life: the need for screening for the remaining missed cases and the late onset types remains to be established.