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Article

Aromatase deficiency caused by mutation of CYP19A1 gene: A case report.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Jun 2022

Li Hongli, Fu Songbo, Dai Ruchun, Sheng Zhifeng, Liu Wei

Abstract excerpt

Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (CYP19A1), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with...

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Identifiers

PMID: 35837780
DOI: 10.11817/j.issn.1672-7347.2022.210401
PMCID: PMC10930014

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