title: Are human male patients with DAX1/NR0B1 mutations infertile?
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.
authors.affiliation: Service de biologie de la reproduction, hôpital Sud, 35000 Rennes, France.
authors.forename: Célia
authors.initials: C
authors.lastname: Ravel
authors.affiliation: Service de génétique et d'embryologie médicales, hôpital Armand Trousseau, AP-HP, Université Paris VI, 75012 Paris, France; Unité Inserm UMR S933, 75012 Paris, France.
authors.forename: Capucine
authors.initials: C
authors.lastname: Hyon
authors.affiliation: Service de génétique et d'embryologie médicales, hôpital Armand Trousseau, AP-HP, Université Paris VI, 75012 Paris, France; Unité Inserm UMR S933, 75012 Paris, France.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Siffroi
authors.affiliation: Service d'endocrinologie, hôpital Saint-Antoine, AP-HP, université Paris VI, 184, rue du faubourg Saint-Antoine, 75012 Paris, France; Unité Inserm UMR S933, 75012 Paris, France. Electronic address: sophie.christin-maitre@sat.aphp.fr.
authors.forename: Sophie
authors.initials: S
authors.lastname: Christin-Maitre
mesh_terms: D000309:Adrenal Insufficiency / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics; D053713:Azoospermia / Q000188:drug therapy / Q000209:etiology; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics* / Q000502:physiology; D005817:Genetic Counseling; D006061:Gonadal Dysgenesis, 46,XY / Q000188:drug therapy / Q000235:genetics*; D006065:Gonadotropins, Pituitary / Q000627:therapeutic use; D020249:Hormone Replacement Therapy; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy / Q000235:genetics; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D020554:Sperm Injections, Intracytoplasmic; D053625:Sperm Retrieval; D013091:Spermatogenesis / Q000502:physiology
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D006065:Gonadotropins, Pituitary; C539965:NR0B1 protein, human
keywords: Azoospermia; Azoospermie; DAX-1 mutations; TESE–ICSI