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A case of Aromatase deficiency due to a novel CYP19A1 mutation

19 Feb 2014

Abstract excerpt

BACKGROUND: Aromatase deficiency is a rare, autosomal recessive disorder of which there are approximately twenty four case reports. The aromatase enzyme is crucial in the biosynthesis of oestrogens from androgens. The phenotype of aromatase deficiency therefore is the result of androgen excess and oestrogen deficiency in the absence of normal aromatase activity. We report the first case of aromatase deficiency...

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Share to Estrogen and related hormone effects
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Hypothalamic control of reproductive hormones

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PMID: 24552606
DOI: 10.1186/1472-6823-14-16

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