A Novel Heterozygous Mutation in Steroidogenic Factor-1 in Pubertal Virilization of a 46,XY Female Adolescent

Siklar, Zeynep; Berberoglu, Merih; Ceylaner, Serdar; Camtosun, EMİNE; Kocaay, Pinar; Gollu, Gulnur; Sertcelik, Ayse; Ocal, Gonul

doi:10.1016/j.jpag.2013.06.006

A Novel Heterozygous Mutation in Steroidogenic Factor-1 in Pubertal Virilization of a 46,XY Female Adolescent

Atıf İçin Kopyala

Siklar Z., Berberoglu M., Ceylaner S., Camtosun E., Kocaay P., Gollu G., ...Daha Fazla

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY, cilt.27, sa.2, ss.98-101, 2014 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 27 Sayı: 2
Basım Tarihi: 2014
Doi Numarası: 10.1016/j.jpag.2013.06.006
Dergi Adı: JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.98-101
İnönü Üniversitesi Adresli: Hayır

Özet

Background: Steroidogenic factor-1 (SF-1) gene (NR5A1) mutations cause disorders of sexual development due to gonadal dysgenesis, particularly in 46,XY individuals. In cases exhibiting this mutation, the phenotype is heterogeneous, and it may vary within a spectrum ranging from complete female appearance to an infertile male. Virilization observed in some cases in the pubertal age group may lead to diagnostic difficulties.