Are human male patients with DAX1/NR0B1 mutations infertile?

作者：Ravel Celia; Hyon Capucine; Siffroi Jean Pierre; Christin Maitre Sophie^*

来源：Annales d'Endocrinologie, 2014, 75(2): 126-127.

DOI：10.1016/j.ando.2014.03.003

• DAX-1 mutations
• Azoospermia
• TESE-ICSI

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.

• 出版日期2014-5