Article
Polymorphism rs2274911 of GPRC6A as a Novel Risk Factor for Testis Failure.
The Journal of clinical endocrinology and metabolism - 1 Mar 2016
De Toni Luca, Di Nisio Andrea, Speltra Elena, Rocca Maria Santa, Ghezzi Marco, Zuccarello Daniela, Turiaco Nunzio, Ferlin Alberto, Foresta Carlo
Abstract excerpt
CONTEXT: The G protein-coupled receptor GPRC6A is an emerging effector with multiple endocrine roles, including stimulation of T production from the testis. Recently, two men with an inactivating mutation (F464Y) of GPRC6A have been identified, and they showed primary testicular failure and deranged spermatogenesis. Furthermore, one of them also reported cryptorchidism at birth. In addition, a polymorphism...
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