title: [48,XXYY men with azoospermia: how to manage infertility?].
abstract: 48,XXYY syndrome is a rare form of sex chromosomal aneuploidy. Usually considered as a variant of Klinefelter syndrome because of shared features (azoospermia, tall stature, hypergonadotropic hypogonadism), it is a separate entity because diagnostic is currently made in prepubertal boy with neuro-psychological disorders. We here report the case of a 48,XXYY patient consulting for adult infertility and the indication to perform testicular sperm extraction is discussed.
authors.affiliation: Pôle femme et enfant, site Jean-Verdier, groupe hospitalier HUPSSD, AP-HP, avenue du 14-Juillet, 93143 Bondy, France; Université SMBH Leonard-de-Vinci, Paris-13, 93000 Bobigny, France. Electronic address: clemence.roche@jvr.aphp.fr.
authors.forename: C
authors.initials: C
authors.lastname: Roche
authors.affiliation: Pôle femme et enfant, site Jean-Verdier, groupe hospitalier HUPSSD, AP-HP, avenue du 14-Juillet, 93143 Bondy, France; Université SMBH Leonard-de-Vinci, Paris-13, 93000 Bobigny, France.
authors.forename: C
authors.initials: C
authors.lastname: Sonigo
authors.affiliation: Pôle femme et enfant, site Jean-Verdier, groupe hospitalier HUPSSD, AP-HP, avenue du 14-Juillet, 93143 Bondy, France; Université SMBH Leonard-de-Vinci, Paris-13, 93000 Bobigny, France.
authors.forename: N
authors.initials: N
authors.lastname: Benmiloud-Tandjaoui
authors.affiliation: Pôle femme et enfant, site Jean-Verdier, groupe hospitalier HUPSSD, AP-HP, avenue du 14-Juillet, 93143 Bondy, France; Université SMBH Leonard-de-Vinci, Paris-13, 93000 Bobigny, France.
authors.forename: J
authors.initials: J
authors.lastname: Boujenah
authors.affiliation: Pôle femme et enfant, site Jean-Verdier, groupe hospitalier HUPSSD, AP-HP, avenue du 14-Juillet, 93143 Bondy, France; Université SMBH Leonard-de-Vinci, Paris-13, 93000 Bobigny, France.
authors.forename: B
authors.initials: B
authors.lastname: Benzacken
authors.affiliation: Pôle femme et enfant, site Jean-Verdier, groupe hospitalier HUPSSD, AP-HP, avenue du 14-Juillet, 93143 Bondy, France; Université SMBH Leonard-de-Vinci, Paris-13, 93000 Bobigny, France.
authors.forename: C
authors.initials: C
authors.lastname: Poncelet
authors.affiliation: Pôle femme et enfant, site Jean-Verdier, groupe hospitalier HUPSSD, AP-HP, avenue du 14-Juillet, 93143 Bondy, France; Université SMBH Leonard-de-Vinci, Paris-13, 93000 Bobigny, France.
authors.forename: J-N
authors.initials: JN
authors.lastname: Hugues
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D001706:Biopsy; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000628:therapy; D007713:Klinefelter Syndrome / Q000150:complications* / Q000473:pathology; D008297:Male; D053625:Sperm Retrieval; D013094:Spermatozoa; D013737:Testis / Q000166:cytology
keywords: 48,XXYY syndrome; Azoospermie secrétoire; Biopsie testiculaire; Klinefelter syndrome; Non obstructive azoospermia; Syndrome 48,XXYY; Syndrome de Klinefelter; Testicular sperm extraction