Advertisement

Journal of Applied Genetics

, Volume 51, Issue 2, pp 223–224 | Cite as

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study

  • F. C. Soardi
  • F. Borchers Coeli
  • A. T. Maciel-Guerra
  • G. Guerra-Júnior
  • M. Palandi de Mello
Case Report

Abstract

TheSRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15–20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in theNR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in theNR5A1 gene, with normalSRY and no adrenal failure.

Keywords

gene mutations NR5A1 gene XY gonadal dysgenesis 

References

  1. Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL, 2002. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab 87: 1829–1833.CrossRefPubMedGoogle Scholar
  2. Hoivik EA, Lewis AE, Aumo L, Bakke M, 2010. Molecular aspects of steroidogenic factor 1 (SF-1). Mol Cell Endocrinol 315: 27–39. DOI: 10.1016/j.mce.2009.07.003.CrossRefPubMedGoogle Scholar
  3. Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, et al. 2009. The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5 A1, Ad4BP) includes severe penoscrotal hypospadias in 46,X Y males without adrenal insufficiency. Eur J Endocrinol 161: 237–242. DOI: 10.1530/EJE-09-0067.CrossRefPubMedGoogle Scholar
  4. Lin L, Achermann JC, 2008. Steroidogenic factor-1 (SF-1, Ad4BP, NR5 A1) and disorders of testis development. Sex Dev 2: 200–209. DOI: 10.1159/000152036.CrossRefPubMedGoogle Scholar
  5. Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, et al. 2009. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med 360: 1200–1210. DOI: 10.1056/NEJMoa0806228.CrossRefPubMedGoogle Scholar
  6. Tajima T, Fujiwara F, Fujieda K, 2009. A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A 1) in a 46,XY disorders of sex development (DSD) patient without adrenal failure. Endocr J 56: 619–624. DOI: 10.1507/endocrj.K08E-380.CrossRefPubMedGoogle Scholar

Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2010

Authors and Affiliations

  • F. C. Soardi
    • 1
  • F. Borchers Coeli
    • 1
  • A. T. Maciel-Guerra
    • 2
  • G. Guerra-Júnior
    • 3
  • M. Palandi de Mello
    • 1
  1. 1.Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic EngineeringCampinas State UniversityCampinasBrazil
  2. 2.Department of Medical Genetics, Faculty of Medical SciencesCampinas State UniversityCampinasBrazil
  3. 3.Department of Pediatrics, Faculty of Medical SciencesCampinas State UniversityCampinasBrazil

Personalised recommendations