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Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency


, : Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency. Endokrynologia, Diabetologia i Choroby Przemiany Materii Wieku Rozwojowego 6(2): 121-127

The author describes the clinical presentation, diagnostic and therapeutic management of 11-beta-hydroxylase deficiency, a form of congenital adrenal hyperplasia second to 21-hydroxylase deficiency. The importance of an early diagnosis is emphasized in avoiding irreversible somatic disorders, mental aberrations and organic lesions. The paper discusses factors that may delay diagnosis and points to the key importance of a physical examination combined with routine assessment of growth and sexual maturation from the neonatal period on in diagnostic management of not only 11-beta-hydroxylase deficiency, but also other causes of sexual ambiguity and precocious puberty.

US$29.90

PMID: 12818073


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