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- W2039210069 abstract "La tétrasomie 48,XXYY est une aneuploïdie gonosomique rare. Souvent considérée comme un variant du syndrome de Klinefelter du fait de caractéristiques communes (azoospermie, grande taille, hypogonadisme hypergonadotrope), il s’agit d’une entité distincte avec un diagnostic le plus souvent pédiatrique du fait de trouble du développement neuropsychologique. Nous rapportons ici le cas d’un patient 48,XXYY diagnostiqué à l’âge adulte dans un contexte d’infertilité et discutons l’indication de réaliser une biopsie testiculaire chez ce patient. 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." @default.
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- W2039210069 date "2014-07-01" @default.
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- W2039210069 title "Azoospermie et tétrasomie 48,XXYY : quelle prise en charge de l’infertilité ?" @default.
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- W2039210069 doi "https://doi.org/10.1016/j.gyobfe.2014.05.009" @default.
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