A novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndrome

Abstract excerpt

BACKGROUND: Descriptions of new cases of human aromatase deficiency are useful for a better understanding of male oestrogen pathophysiology, as some aspects remain controversial. OBJECTIVE: To present a new case of an adult man affected by aromatase deficiency, along with a description of clinical phenotype, and hormonal and genetic analysis. DESIGN: Case report study. PATIENT: A 25-year-old man with continuing...

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