Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

Fertil Steril. 2009 Oct;92(4):1347-1350. doi: 10.1016/j.fertnstert.2009.04.009. Epub 2009 May 21.


We screened 100 individuals with anomalies of testicular development or function for mutations in the TSPYL1 gene. A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with idiopathic azoospermia harbored a p.R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Case-Control Studies
  • Chromosomes, Human, Y / genetics
  • DNA Mutational Analysis
  • Female
  • Genetic Testing
  • Gonadal Dysgenesis, 46,XY / complications
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Humans
  • Infant, Newborn
  • Infertility, Male / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation / physiology
  • Nuclear Proteins / genetics*
  • Sequence Homology, Amino Acid
  • Sudden Infant Death / genetics


  • Nuclear Proteins
  • TSPYL1 protein, human