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., ...More

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY, vol.27, no.2, pp.98-101, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 2
  • Publication Date: 2014
  • Doi Number: 10.1016/j.jpag.2013.06.006
  • Journal Name: JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.98-101
  • Keywords: Steroidogenic factor-1, Pubertal virilization, Gonadal dysgenesis, NR5A1, SF-1, DISORDERS
  • Ankara University Affiliated: Yes

Abstract

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.