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

ŞIKLAR Z., BERBEROĞLU M., Ceylaner S., Camtosun E., Kocaay P., GÖLLÜ BAHADIR G., ...Daha Fazla

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

  • 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
  • Anahtar Kelimeler: Steroidogenic factor-1, Pubertal virilization, Gonadal dysgenesis, NR5A1, SF-1, DISORDERS
  • Ankara Üniversitesi Adresli: Evet

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.