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  • 1 Borsod County and University Hospital Miskolc Childcare Center, Department of Pediatrics No. III Szentpéteri kapu 72 H-3501 Miskolc Hungary
  • 2 Borsod County and University Hospital Miskolc Department of Pediatric Surgery Szentpéteri kapu 72 H-3501 Miskolc Hungary
  • 3 Borsod County and University Hospital Miskolc Department of Pediatric Radiology Szentpéteri kapu 72 H-3501 Miskolc Hungary
  • 4 Borsod County and University Hospital Miskolc Department of Pathology Szentpéteri kapu 72 H-3501 Miskolc Hungary
  • 5 National Medical Center Department of Obstetrics and Gynaecology Budapest Hungary
  • 6 Ferenc Markhot Hospital Genetic Laboratory Eger Hungary
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Authors report a case of mixed gonadal dysgenesis with a karyotype containing an isodicentric Y chromosome in mosaic form, which was diagnosed in an infant. They emphasize the necessity of special investigations of newborns with perineoscrotal hypospadias and bilateral or unilateral maldescent testes, immediately after birth. The result of accurate evaluation provides correct sex assignment and the prevention of neoplastic transformation of the dysgenetic gonad.

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