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Updated: Jul 14, 2026

Determination of Reproductive Competence by Confirming Pubertal Onset and Performing a Fertility Assay in Mice and Rats
Published on: October 13, 2018
True hermaphroditism in a phenotypic male without ambiguous genitalia: an unusual presentation at puberty
Guillermo Alonso1, Titania Pasqualini, Julio Busaniche
1Departamento de Pediatría, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina. guillermo.alonso@hospitalitaliano.org.ar
Abstract:
True hermaphroditism usually appears with ambiguous genitalia requiring extensive evaluation during 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 true hermaphroditism who presented 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 and normal testosterone and increased gonadotropin levels. Gonadal ultrasound scan was compatible with testicular and ovarian tissues in scrotum, and the karyotype showed two cellular lines (46,XX/46,XY). Gonadal histology revealed bilateral ovotestes. A genotype polymerase chain reaction mediated analysis using seven microsatellite markers did not confirm chimerism. Clinical findings and mechanism of generation are discussed.
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