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

Received 4 February 2009; received in revised form 3 April 2009; accepted 3 April 2009. published online 21 May 2009.

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.

Key Words: 46,XY DSD, male infertility, TSPYL1, testis

a Human Developmental Genetics, Institut Pasteur, Paris, France

b Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie pédiatrique, Le Kremlin Bicêtre, France

c Heim Pál Children's Hospital, Budapest, Hungary

d Human Genetics Unit, Institut Pasteur of Morocco, Casablanca, Morroco

e Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India

f UPMC Univ Paris, Paris, France

g AP-HP, Hôpital Tenon, Service d'Histologie Biologie de la Reproduction, Paris, France

Reprint requests: Ken McElreavey, Ph.D., Human Developmental Genetics, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France (FAX: 00 33 1 4568 8639).

G.V. has nothing to disclose. R.B. has nothing to disclose. A.T. has nothing to disclose. H.R. has nothing to disclose. J.S. has nothing to disclose. F.S. has nothing to disclose. C.R. has nothing to disclose. K.M. has nothing to disclose. A.B. has nothing to disclose.

Supported by the Association pour la Recherche contre le Cancer and by a research grant (1-FY07-490) from the March of Dimes Foundation (to Dr. McElreavey).

PII: S0015-0282(09)00839-5

doi:10.1016/j.fertnstert.2009.04.009

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