A case of Aromatase deficiency due to a novel CYP19A1 mutation.

ABSTRACT:

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 diagnosed in a female adult, at the age of 32 years, due to a novel duplication in the aromatase gene.

Case presentation

A 32 year old Indian woman presented with a history of gender assignment difficulties at birth, lack of pubertal development, osteopaenia with fracture and tall stature. She had central obesity, impaired fasting glucose and borderline hypertension. Pa

SUBMITTER: Gagliardi L 

PROVIDER: S-EPMC3936939 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature