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Article

Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.

Clinical endocrinology - 1 Jul 2011

Hauri-Hohl Annik, Meyer-Böni Monika, Lang-Muritano Mariarosaria, Hauri-Hohl Mathias, Schoenle Eugen J, Biason-Lauber Anna

Abstract excerpt

CONTEXT: Aromatase deficiency in women is a rare 46, XX disorder of sex differentiation characterized by a defect in catalysing oestrogens from androgens. OBJECTIVE: To better understand this rare disorder, we searched for mutations in the CYP19A1 gene of an affected girl and analysed their functional consequences. DESIGN AND PATIENT: We examined a girl presenting with clitoral hypertrophy at birth and mild...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21521281
DOI: 10.1111/j.1365-2265.2011.04012.x

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