title: [Azoospermia and 45,X/46,XY chromosomal mosaicism: a case report].
abstract: Chromosomal abnormalities are common in patients with oligozoospermia or azoospermia. We report the case of a 32-year patient, with male phenotype, and without hormonal or morphological abnormalities, with a severely reduced spermatogenesis. It was revealed a 45,X/46,XY gonadal dysgenesis. We have reviewed the various problems inherent in the discovery of this rare gonadal dysgenesis, including genetic, cancer and fertility risks.
authors.affiliation: Laboratoire de biologie de la reproduction, université de Lorraine, maternité régionale universitaire de Nancy, 10, rue du Docteur-Heydenreich, 54000 Nancy, France. melanie.lec1@voila.fr
authors.forename: M
authors.initials: M
authors.lastname: Le Chatton
authors.forename: A
authors.initials: A
authors.lastname: Zaccabri
authors.forename: M
authors.initials: M
authors.lastname: Agopiantz
authors.forename: B
authors.initials: B
authors.lastname: Leheup
authors.forename: G
authors.initials: G
authors.lastname: Weryha
authors.forename: B
authors.initials: B
authors.lastname: Foliguet
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D025063:Chromosome Disorders / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism; D014424:Turner Syndrome / Q000235:genetics*