Roche C, Sonigo C, Benmiloud-Tandjaoui N, Boujenah J, Benzacken B, Poncelet C, Hugues J-N
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.
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.
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 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.
48,XXYY综合征是一种罕见的性染色体非整倍体形式。由于具有一些共同特征（无精子症、身材高大、高促性腺激素性性腺功能减退），它通常被认为是克兰费尔特综合征的一种变体，但它是一个独立的实体，因为目前是在患有神经心理障碍的青春期前男孩中做出诊断的。我们在此报告一例因成人不育前来咨询的48,XXYY患者，并讨论了进行睾丸精子提取的指征。
