A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue


ACAR S., Erbas I. M. , Paketci A., ONAY H. , ÇANKAYA T., Gursoy S., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.62, no.5, pp.826-830, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.24953/turkjped.2020.05.015
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.826-830

Abstract

Background. Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts.