[48,XXYY men with azoospermia: how to manage infertility?]

C Roche; C Sonigo; N Benmiloud-Tandjaoui; J Boujenah; B Benzacken; C Poncelet; J-N Hugues

doi:10.1016/j.gyobfe.2014.05.009

[48,XXYY men with azoospermia: how to manage infertility?]

Gynecol Obstet Fertil. 2014 Jul-Aug;42(7-8):528-32. doi: 10.1016/j.gyobfe.2014.05.009. Epub 2014 Jun 13.

[Article in French]

Authors

C Roche¹, C Sonigo², N Benmiloud-Tandjaoui², J Boujenah², B Benzacken², C Poncelet², J-N Hugues²

Affiliations

¹ 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.
² 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.

PMID: 24934769
DOI: 10.1016/j.gyobfe.2014.05.009

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.

Keywords: 48,XXYY syndrome; Azoospermie secrétoire; Biopsie testiculaire; Klinefelter syndrome; Non obstructive azoospermia; Syndrome 48,XXYY; Syndrome de Klinefelter; Testicular sperm extraction.

Publication types

Case Reports
English Abstract

MeSH terms

Adult
Azoospermia / genetics*
Biopsy
Humans
Infertility, Male / genetics*
Infertility, Male / therapy
Klinefelter Syndrome / complications*
Klinefelter Syndrome / pathology
Male
Sperm Retrieval
Spermatozoa
Testis / cytology