A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent


ŞIKLAR Z., BERBEROĞLU M., CEYLANER S., Çamtosun 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
  • Lokman Hekim 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. Case: The present case report describes the clinical, histopathologic, and genetic characteristics of a 46,XY case, who was born with a female phenotype and raised as a girl, presented with findings of virilization in the pubertal period. She had no germ cells and very few Leydig cells with atrophic testis on biopsy and in whom a novel heterozygous mutation in the SF-1 gene (a heterozygous 7-bp deletion mutation in exon 7 [c.1308-1314del7bp] causing frameshift) was identified. Summary and Conclusion: Although the gonads are very dysgentic in patient with SF-1 mutations, sufficient androgen synthesis can cause severe virilization during puberty. © 2014 North American Society for Pediatric and Adolescent Gynecology.