Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization.

Abstract excerpt

BACKGROUND: Aromatase deficiency is a rare autosomal recessive disorder that is caused by an impairment of androgen conversion to estrogens. Affected 46, XX individuals generally present with virilization of external genitalia at birth and mutations in CYP19A1 gene. OBJECTIVE: This study described the clinical features and molecular basis of a Chinese 46, XX girl born with ambiguous genitalia and investigated the...

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• 46, XX Disorders of Sex Development
• Amino Acids
• Aromatase
• Gynecomastia
• Infertility, Male