Background: Ovotesticular disorder of sex development (DSD) is characterized by the presence of both testicular and ovarian tissue in the gonads of an individual. Selective gonadal surgery is usually performed in infancy.
Objective and hypotheses: Little is known about the long-term outcome of conservative gonadal surgery in ovotesticular DSD. We present our experience in a 46,XX girl diagnosed in the neonatal period.
Method: The patient was evaluated at 2 months of life with for a 2 cm clitoris above a single opening. Blood karyotype was 46,XX. Serum anti-Mullerian hormone (AMH) concentration was 150 pmol/l (normal range 240) and serum testosterone concentration was 0.7 ng/ml (normal range 0.040.4). At 20 months, on laparoscopy, a small uterus was noticed with, on the right a fallopian tube adjacent to an oblong gonad ovarian like and, on the left, a fallopian tube adjacent to a second gonadal structure. Right biopsy revealed ovarian tissue, with normal ovarian stroma and oocytes. Two left biopsies revealed coexistence of testicular tissue with normal-appearing seminiferous tubules and ovarian tissue with oocytes. The girl underwent vaginoplastie, but no gonadal surgery.
Results: Serum AMH and testosterone concentrations were followed. The girl had a spontaneous puberty with breast development at 11 and menarche at 13 years old with regular menstruations. At 14 years, her clitoris measured 1×0.8 cm. Pelvic MRI shown a 55 mm pubertal uterus. The right ovary measured 35×16 mm with multiple follicles. The left gonad is heterogeneous, measured 19×16 mm, and showed multiple follicles below a parenchymal structure measuring 15×8 mm. Serum AMH concentration is 18 pmol/l (normal range 560) and serum testosterone is 0.18 ng/ml (normal <0.8).
Conclusion: Conservative gonadal surgery could be proposed in 46,XX ovotesticular DSD, while serum AMH allows the monitoring of the testicular tissue. In our patient, it seems that the ovarian tissue remained functional and that testicular tissue regressed, allowing spontaneous puberty. Long-term follow-up remains essential regarding the gonadal tumoral risk.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology