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2-month old boy with prenatally diagnosed Klinefelter syndrome (amniocentesis with kariotyping performed because of hypotrophia of the fetus as well as prenatal ultrasound results suggestive of abnormal external genitalia) was referred for urological evaluation because of ambiguous genitalia (Figure 1 a, b). After birth small VSD was diagnosed, which closed spontaneously during follow-up. On physical examination partial penoscrotal transposition, bifid scrotum and bilateral scrotal hernia were noted. Abdominal ultrasound was unremarkable, scrotal ultrasound showed disseminated microscopic calcifications within both testes (Figure 2 a, b). Tumor markers were within normal limits. At the time of bilateral herniorraphy cystoscopy was done: normal bladder and urethra and no Mullerian structures were found.

Incomplete Penoscrotal Transposition in a Boy with Prenatally Diagnosed Klinefelter Syndrome: Case Presentation and Review of the Literature