1. Are human male patients with DAX1/NR0B1 mutations infertile?
- Author
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Ravel C, Hyon C, Siffroi JP, and Christin-Maitre S
- Subjects
- Adrenal Insufficiency drug therapy, Adrenal Insufficiency genetics, Azoospermia drug therapy, Azoospermia etiology, DAX-1 Orphan Nuclear Receptor physiology, Genetic Counseling, Gonadal Dysgenesis, 46,XY drug therapy, Gonadotropins, Pituitary therapeutic use, Hormone Replacement Therapy, Humans, Hypogonadism drug therapy, Hypogonadism genetics, Male, Sperm Injections, Intracytoplasmic, Sperm Retrieval, Spermatogenesis physiology, Adrenal Insufficiency congenital, DAX-1 Orphan Nuclear Receptor genetics, Gonadal Dysgenesis, 46,XY genetics, Infertility, Male genetics
- Abstract
DAX-1 stands for Dosage sensitive sex-reversal, Adrenal hypoplasia congenital (AHC), on the X chromosome. DAX-1 mutations usually cause primary adrenal insufficiency or congenital adrenal hypoplasia in early childhood and hypogonadotropic hypogonadism (MIM # 300200). DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Cases of azoospermia have been reported, as well as unsuccessful gonadotropin treatments. The clinician should be informed that TESE-ICSI technique carries a potential hope to father non-affected children, as shown in this review., (Copyright © 2014. Published by Elsevier Masson SAS.)
- Published
- 2014
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