ESPE Abstracts

ESPE Abstracts

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hrp0082p2-d1-269 | Adrenals & HP Axis | ESPE2014

Congenital Adrenal Hyperplasia Caused by 11β-hydroxylase-Deficiency as a Rare Differential Diagnosis of Precocious Pseudo-Puberty and Hypertension

Yakovenko Vira , Simon Anke , Schulze Egbert , Grulich-Henn Jurgen , Bettendorf Markus

Background: 11β-hydroxylase deficiency (HD) represents a rare cause of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency and excess of mineralcorticoids and androgens. The CYP11B1 gene on chromosome 8q22 encodes the 11β-hydroxylase.Objective: To report clinical, biochemical and molecular features of patients with 11β-HD.Results: Four male patients of Turkish descent with 11β-HD incl...
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ESPE Abstracts

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