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https://hdl.handle.net/11499/37013
Title: | A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue | Authors: | Acar, S. Erbaş, İ.M. Paketçi, A. Onay, H. Çankaya, T. Gürsoy, S. Özhan, Bayram Abacı, Ayhan Özer, Erdener Olguner, Mustafa Böber, Ece Demir, Korcan |
Keywords: | Ambiguous genitalia Clitoromegaly Disorders of sex development Hirsutism P450 oxidoreductase deficiency case report |
Publisher: | Turkish National Pediatric Society | 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. © 2020, Turkish National Pediatric Society. All rights reserved. | URI: | https://hdl.handle.net/11499/37013 https://doi.org/10.24953/turkjped.2020.05.015 |
ISSN: | 0041-4301 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu TR Dizin İndeksli Yayınlar Koleksiyonu / TR Dizin Indexed Publications Collection WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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