Prepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report

Pan, Pradyumna (2018) Prepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report. International Journal of Pediatrics, 6 (10). pp. 8381-8384.

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Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of the causes of abnormal genitalia at birth. Understanding of the indications of karyotyping can help early detection of these cases. We report a boy who had Klinefelter syndrome with penoscrotal transposition (PST), hypospadias and inguinal hernia.

Item Type: Article
Subjects: WS Pediatrics
QY Clinical Pathology
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 07 Jan 2019 11:07
Last Modified: 07 Jan 2019 11:07

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