[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
Gynécologie, Obstétrique & Fertilité 2014, 42 (7-8): 528-32
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.


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