A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency

Tuhan H., Anik A., Catli G., Onay H., AYKUT A., ABACI A., ...More

ANDROLOGIA, vol.49, no.1, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 1
  • Publication Date: 2017
  • Doi Number: 10.1111/and.12589
  • Journal Name: ANDROLOGIA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Ambiguous genitalia, disorders of sex development, steroidogenic factor-1, NR5A1 GENE, FACTOR-I, CRYPTORCHIDISM, INFERTILITY, DISEASE, TESTIS, SF-1
  • Dokuz Eylül University Affiliated: Yes


Steroidogenic factor-1 (SF-1), also known as nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of orphan receptor subfamily and located on chromosome 9 (9q33). In 46, XY individuals with mutation of SF-1 gene, adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus, infertility can occur from severe to mild. We report a case of a 20-day-old male who is admitted to our clinic due to ambiguous genitalia. In this report, we describe a novel heterozygous c.814A > C (p.T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency. We describe a novel missense mutation c.814A > C (p.T272P) in NR5A1 gene which had not previously been reported. Also this report highlights that the potential diagnostic utility of next-generation sequencing is an effective strategy versus Sanger sequencing to identify genetic mosaicism in clinical practice.