ISSN 1470-3947 (print)
ISSN 1479-6848 (online)

Searchable abstracts of presentations at key conferences in endocrinology

Published by BioScientifica
Endocrine Abstracts (2003) 5 P16 
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Recurrent ovulation from an ovo-testis in 46XX/47XXY (mosaic) hermaphroditism: Serial high-resolution ultrasound characterisation

TM Barber1, SG Ball1,2 & ST Elliott1

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An ovo-testis (a gonad showing aspects of both ovarian and testicular function) occurs in some 60% of true hermaphrodites. They may be located in the labio-scrotal folds, inguinal canal or abdomen and are often removed prior to or shortly after the onset of puberty. Though the potential for ovulatory function within such a gonad is acknowledged, it is rarely witnessed and there are few detailed descriptions of the phenomenon. We describe serial observations of this process in a patient with true hermaphroditism.
The patient, currently 22 years of age, was born with ambiguous genitalia and high-grade perineal hypospadias. Karyotypic analysis revealed 46XX/47XXY mosaicism. Subsequent clinical, radiological and biochemical studies confirmed true hermaphroditism. As a neonate, one (retro-peritoneal) gonad was surgically excised and found to contain ovarian tissue. Biopsy of the contralateral(scrotal) gonad revealed testicular tissue only. Following parental wishes at that time, this gonad was left in situ and the patient reared as a male. During his teenage years he developed gynaecomastia and both clinical and biochemical evidence of partial hypergonadotrophic hypogonadism, with sub-optimal testosterone levels and elevated levels of oestradiol. From his late teens he developed episodic pain within his remaining (scrotal) gonad. Sequential high-resolution gonadal ultrasound has revealed recurrent development of partially cystic structures migrating to, and subsequently fusing with, the surface: consistent with recruitment and development of an ovum with, ultimately, ovulation.
We believe this to be one of the very few observations of serial ovulation from an ovo-testis, providing a very graphic demonstration of the truly bi-functional nature of this type of gonad.

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