True Hermaphroditism: An Unusual Presentation At Puberty Without Ambiguous Genitalia.

ALONSO A; PASQUALINI T; BUSANICHE J; RUIZ E; CHEMES HE

HORMONE RESEARCH

Año: 2006

0301-0163

Abstract: True Hermaphroditism (TH) usually appears with ambiguous genitalia requiring extensive evaluation in the neonatal period. There have been occasional cases with better differentiation of external genitalia leading to delays in diagnosis. We report the case of an adolescent boy with TH who presents with normal external genitalia and no sexual ambiguity. He was referred due to progressive gynecomastia and arrest of puberty. He presented at the age of 16 years for gynecomastia of rapid progression with normal penile development and both gonads in scrotum, normal testosterone and increased gonadotrophic levels. Gonadal ultrasound scan was compatible with testicular and ovarian tissues in scrotum, and the karyotype showed two cellular lines (46XX/46XY). Gonadal histology revealed bilateral ovotestes. A genotype PCR mediated analysis using 7 microsatellite markers did not confirm chimerism. Clinical findings and mechanism of generation are discussed. Key words: true hermaphroditism, ambiguous genitalia, mosaicism, chimerism.