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hrp0084p1-11 | Adrenal | ESPE2015

Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with a Reversible Cardiomyopathy Caused by a Novel CYP11B1 Mutation: Report of Three Cases

Alqahtani Mohammad Ahmad Awwad , Shati Ayed A , Zou Minjing , Alsuheel Ali M , Alhayani Abdullah A , Al-Qahtani Saleh M , Gilban Hessa M , Meyer Brain F , Shi Yufei

Background: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, virilisation, and ambiguous genitalia of genetically female infants.Objective: The aim of the study was to identify the molecular detect ca...

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Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with a Reversible Cardiomyopathy Caused by a Novel CYP11B1 Mutation: Report of Three Cases

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