Endocrine Abstracts

JOINT3971

Introduction: 46,XX ovotesticular disorder of sexual development (DSD) is a rare condition characterized by abnormal gonadal differentiation, with both testicular and ovarian tissue coexisting in the same individual. Typically, the testicular tissue is dysgenetic, while the ovarian tissue is normal.

Methods: We report the case of a 1-year-and-5-month-old child referred to our Pediatric Department A at Hedi Chaker University Hospital in Sfax for evaluation of DSD.

Results: The infant, assigned male at birth, presented with posterior hypospadias and left testicular ectopia. Born to non-consanguineous parents, the child was delivered at term with a birth weight of 3700 g, length of 48 cm, and head circumference of 34 cm. Psychomotor development was normal. On clinical examination, the child weighed 9 kg (−1.5 SD) and measured 79 cm (average height), with no dysmorphic features or limb abnormalities. The genital tubercle measured 2 cm, with penoscrotal hypospadias and a well-developed scrotum. A palpable right gonad (15 mm) was noted, while no gonad was identified on the left side. Hormonal testing at 18 months showed FSH at 1.8 mIU/ml, LH at 0.1 mIU/ml, testosterone at 0.03 ng/ml, DHT at 0.09 ng/ml, and low AMH at 16 ng/ml. Karyotyping revealed a 46,XX chromosomal pattern, and PCR analysis of the SRY gene was inconclusive, requiring FISH for further clarification. Abdominal ultrasound revealed a Müllerian cavity, a right testis in the distal inguinal canal, and no left gonad. Pelvic MRI confirmed the Müllerian cavity, a right testis, and a left oval structure suggestive of either an ovary or a polycystic testis. Surgical intervention included excision of the left gonad and Müllerian structures, along with a biopsy of the right gonad. Histopathological analysis confirmed the presence of an ovary on the left and a testis on the right. Following discussions with the parents, the child was raised as male. Androtardyl® treatment was initiated, with two injections showing a good response, followed by hypospadias repair. At 4 years and 9 months, the child was eutrophic, with a 5 cm phallus, a slightly posterior urethral meatus, a right testis in place, and an empty left scrotum.

Conclusion: 46,XX ovotesticular DSD is a rare condition. Sex assignment can be challenging, and management requires a multidisciplinary approach.