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

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

[Article in French]

Author information

  • 1Pôle 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.
  • 2Pôle 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.

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.

Copyright © 2014 Elsevier Masson SAS. All rights reserved.

KEYWORDS:

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

PMID:
24934769
[PubMed - indexed for MEDLINE]
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