deficiency with normal ovarian tissue

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.C1 [Acar, Sezer; Erbas, Ibrahim Mert; Paketci, Ahu; Abaci, Ayhan; Bober, Ece; Demir, Korcan] Dokuz Eylul Univ, Fac Med, Dept Pediat Endocrinol, Izmir, Turkey.[Cankaya, Tufan] Dokuz Eylul Univ, Fac Med, Dept Med Genet, Izmir, Turkey.[Gursoy, Semra] Dokuz Eylul Univ, Fac Med, Dept Pediat Genet, Izmir, Turkey.[Ozer, Erdener] Dokuz Eylul Univ, Fac Med, Dept Pathol, Izmir, Turkey.[Olguner, Mustafa] Dokuz Eylul Univ, Fac Med, Dept Pediat Surg, Izmir, Turkey.[Onay, Huseyin] Ege Univ, Dept Med Genet, Fac Med, Izmir, Turkey.[Ozhan, Bayram] Pamukkale Univ, Dept Pediat Endocrinol, Fac Med, Denizli, Turkey