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Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature.


ABSTRACT: We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases.

SUBMITTER: Hodhod A 

PROVIDER: S-EPMC4439239 | biostudies-other | 2015 May-Jun

REPOSITORIES: biostudies-other

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Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature.

Hodhod Amr A   Umurangwa Florence F   El-Sherbiny Mohamed M  

Canadian Urological Association journal = Journal de l'Association des urologues du Canada 20150501 5-6


We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early detection of these cases. ...[more]

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