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  • Le Syndrome de Klinefelter
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Le syndrome de Klinefelter chez l'enfant

The Klinfelter syndrome in children

Resume

Le syndrome de Klinefelter se caractérise, chez l'adulte, par un ensemble de manifestations cliniques et biologiques typiques. Chez l'enfant, en dépit d'une incidence élevée (1 à 2/1000 garçons nouveau-nés), le syndrome de Klinefelter reste peu diagnostiqué, de par une symptomatologie peu évocatrice: dysmorphie faciale, anomalie des organes génitaux, troubles du langage, avance staturale. Pendant ou après la puberté, ce syndrome est reconnu devant une atrophie testiculaire, constante, une grande taille, une gynécomastie principalement.

Dans la mesure où une androgénothérapie en période pubertaire est susceptible d'améliorer significativement le pronostic péjoratif de ces adolescents, il faut souligner la nécessité de réaliser un diagnostic précoce et une prise en charge en période pubertaire.

Abstract

Klinfelter syndrome was first described in adult males with gynecomastia, azoospermia and hypergonadotropic hypogonadism. Children with the 47, XXY karyotype demonstrate few clinical findings so Klinefelter syndrome is rarely diagnosed until adult life.

Besides children who have been diagnosed during prenatal genetic testing, in infancy a male with 47, XXY (or variants: 46, XY-47, XXY; 48, XXXY; 48, XXYY, 49, XXXXY) may be found while undergoing evaluation of micropenis, hypospadias, cryptorchidism or facial anomalies. The older child may present with learning disabilities, behavior disorders or tall stature. At the time of puberty, the clinical picture includes small testes, gynecomastia and an eunuchoid habitus. Early diagnosis of Klinefelter syndrome must be performed since it has been demonstrated that early treatment with androgens may ameliorate many aspects of the clinical symptoms and attenuate or prevent behavioral and psychiatric disorders associated with 47, XXY males.

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Sultan, C., Lobaccaro, J.M., Lumbroso, S. et al. Le syndrome de Klinefelter chez l'enfant. Androl. 4, 283–287 (1994). https://doi.org/10.1007/BF03034316

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