A novel compound heterozygous variant in CYP19A1 resulting in aromatase 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 femal...

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Main Authors: Sezer Acar, Ece Böber, Mustafa Olguner, Erdener Özer, Ayhan Abacı, Bayram Özhan, Semra Gürsoy, Tufan Çankaya, Hüseyin Onay, Ahu Paketçi, İbrahim Mert Erbaş, Korcan Demir
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2020-10-01
Series:The Turkish Journal of Pediatrics
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Online Access:https://turkjpediatr.org/article/view/519
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