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.

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

Copyright and license

Copyright © 2020 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Acar S, Böber E, Olguner M, et al. A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue. Turk J Pediatr 2020; 62: 826-830. https://doi.org/10.24953/turkjped.2020.05.015