A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue
Makaleler > Tam Makale · 2020
Yazarlar: Sezer Acar, İbrahim Mert Erbaş, Ahu Paketçi, Hüseyin Onay, Tufan Çankaya, Semra Gürsoy, Bayram Özhan, Ayhan Abacı, Erdener Özer, Mustafa Olguner, Ece Böber, Korcan Demir
The Turkish Journal of Pediatrics, Uluslararası, Wos, 2020, cilt 62, ss 826-830
DOI: 10.24953/turkjped.2020.05.015
Özet
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.