The Turkish Journal of Pediatrics
2020 , Vol 62 , Num 5
A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue
1 Departments of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey2 Department of Medical Genetics, Ege University Faculty of Medicine, İzmir, Turkey
3 Departments of Medical Genetics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
4 Departments of Pediatric Genetics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
5 Department of Pediatric Endocrinology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
6 Departments of Pathology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
7 Departments of Pediatric Surgery, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey 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 : disorders of sex development, p450 oxidoreductase deficiency, clitoromegaly, hirsutism, ambiguous genitalia