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

Turk J Pediatr. 2020;62(5):826-830. doi: 10.24953/turkjped.2020.05.015.


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.

Case: Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous variant in CYP19A1 [IVS10 + 1 G > A; c.344 G > A (p.R115Q)], with normal gonadotropin levels at the time of admission and histologically normal ovarian tissues.

Conclusion: Aromatase deficiency should also be considered even if the initial follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels are normal, and ovarian cysts are lacking.

Keywords: ambiguous genitalia; clitoromegaly; disorders of sex development; hirsutism; p450 oxidoreductase deficiency.

Publication types

  • Case Reports

MeSH terms

  • 46, XX Disorders of Sex Development*
  • Aromatase / deficiency
  • Aromatase / genetics
  • Female
  • Gynecomastia*
  • Humans
  • Infertility, Male*
  • Male
  • Metabolism, Inborn Errors*
  • Pregnancy


  • Aromatase
  • CYP19A1 protein, human

Supplementary concepts

  • Aromatase deficiency