title: Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia.
abstract: Mutations in the orphan nuclear receptor DAX1 (NR0B1) cause X-linked adrenal hypoplasia congenital (AHC), a disorder characterized by primary adrenal failure, hypogonadotropic hypogonadism. and azoospermia. We tested the hypothesis that DAX1 somatic mutations in human testis may cause azoospermia. DAX1 sequencing analysis in 15 testicular biopsy samples from men with idiopathic nonobstructive azoospermia did not reveal mutations in the coding region of the gene. We conclude that somatic abnormalities in DAX1 are absent or uncommon in these patients.
authors.affiliation: Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, Milan, Italy. giovanna.mantovani@unimi.it
authors.forename: Giovanna
authors.initials: G
authors.lastname: Mantovani
authors.forename: Mario
authors.initials: M
authors.lastname: Mancini
authors.forename: Giacomo
authors.initials: G
authors.lastname: Gazzano
authors.forename: Anna
authors.initials: A
authors.lastname: Spada
authors.forename: Giovanni M
authors.initials: GM
authors.lastname: Colpi
authors.forename: Paolo
authors.initials: P
authors.lastname: Beck-Peccoz
authors.forename: Luca
authors.initials: L
authors.lastname: Persani
mesh_terms: D000328:Adult; D057137:DAX-1 Orphan Nuclear Receptor; D004252:DNA Mutational Analysis / Q000379:methods; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics*; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D013737:Testis / Q000737:chemistry*
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins