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Article

Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene

Journal of clinical research in pediatric endocrinology - 29 Nov 2018

Unal Edip, Yıldırım Ruken, Taş Funda Feryal, Demir Vasfiye, Onay Hüseyin, Haspolat Yusuf Kenan

Abstract excerpt

Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens. A 19 months old girl patient was...

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Identifiers

PMID: 29553041
DOI: 10.4274/jcrpe.0011
PMCID: PMC6280327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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