A novel compound heterozygous variant in CYP19A1resulting in aromatase deficiency with normal ovarian tissue
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Tarih
2020
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Dergi ISSN
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Erişim Hakkı
info:eu-repo/semantics/openAccess
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.
Açıklama
Anahtar Kelimeler
Kaynak
Turkish Journal of Pediatrics
WoS Q Değeri
Scopus Q Değeri
Cilt
62
Sayı
5
