Journal
FERTILITY AND STERILITY
Volume 92, Issue 4, Pages 1347-1350Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.fertnstert.2009.04.009
Keywords
46,XY DSD; male infertility; TSPYL1; testis
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Funding
- Association pour la Recherche contre le Cancer [1-FY07-490]
- March of Dimes Foundation
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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. (Fertil Steril (R) 2009;92:1347-50. (C)2009 by American Society for Reproductive Medicine.)
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