Concurrence of Klinefelter Syndrome With Hypospadias and Chordee in Identical Twins: A Rare Presentation - 22/08/11
, Nazanin Baradaran, Shadi Abdar Esfahani, Hamed Aghdam
Reprint requests: Abdolmohammad Kajbafzadeh, M.D., Pediatric Urology Research Center, Department of Pediatric Urology, Children's Hospital Medical Center, Tehran University of Medical Sciences, 36 7th Street, 2nd Floor, Saadat-Abad, Avenue, Tehran 1998714616 IranRésumé |
Klinefelter syndrome (KFS), is the most common disorder of the sex chromosomes, affecting 1/1000 male births, and presents with underdeveloped secondary sexual characteristics, infertility, and increased urinary excretion of gonadotropin. External genitourinary malformations in KFS are not common, except for small testes. We present identical twins with a 47XXY karyotype and discordant hypospadias and concomitant chordee. To our knowledge, this is the first report of such an association. The diverse possible etiologies explaining the relationship between the presenting congenital defects in identical twins are discussed. We believe that 1 known genetic malformation such as KFS warrants additional urologic assessment.
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Vol 73 - N° 5
P. 1026-1028 - mai 2009 Retour au numéro
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