JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.18, no.6, pp.603-606, 2005 (SCI-Expanded)
True hermaphroditism, a very rare cause of intersex, is usually diagnosed during the newborn period in the course of evaluating ambiguous genitalia. As an exception we report an unusual case of a 14.5 year-old boy with phenotypically near-normal male genitalia and bilaterally descended gonads, who was seen for evaluation of gynecomastia and hematuria. His eunuchoid body habitus and mild mental retardation were compatible with Klinefelter's syndrome. He had a low level of free testosterone (15.2 pmol/l), and high level of estradiol (264.3 pmol/l) for his age. The patient was diagnosed as true hermaphroditism with 46,XX /47,XXY karyotype causing an ovotestis with inguinal uterus hernia in the left scrotum and a dysgenetic testis in the right scrotum.