Background: Ovotesticular disorders of sexual development (DSD) are a rare form of DSD with co-existence of both ovarian and testicular tissue in one or both gonads.
Case report: A term infant (weight +1.38 SDS) presented at birth with severe penoscrotal hypospadias, a small phallus and a right hemiscrotum with descended gonad (external masculinization score 1.5). Pelvic ultrasound revealed no Mullerian structures, a small right gonad with probable epididymis, and no gonad on the left. Karyotype showed 46 XX with no mosaicism. A 3-day HCG test demonstrated functioning testicular tissue with a testosterone rise (7.913.4 nmol/l). Laparoscopy showed a vestigial uterus and a left gonad associated with fallopian tube which was removed. Histology confirmed ovotestes on both sides. Gonadal karyotype was 46,XX. A diagnosis of 46,XX ovotesticular DSD was made and a male gender was assigned with parental concurrence. He underwent hypospadias repair with good results. Family were keen to preserve gonad hence right ovotestis was left in the scrotum with a view to monitoring carefully at puberty. From age 13 there was evidence of virilisation. His testosterone was 4.4 nmol/l, oestradiol 88 nmol/l, LH 10.3 nmol/l and, FSH 23 nmol/l, indicating a failing gonad producing predominantly testosterone. Subsequently he developed progressive gynaecomastia. Repeat blood tests showed a fall in testosterone (0.8 nmol/l) but detectable oestradiol (34 nmol/l) levels. Hence a 3-day HCG test was undertaken (testosterone 1 14 nmol/l; oestradiol 168->83 nmol/l)); shortly afterwards he presented with acute right scrotal pain. Intra-operatively he was found to be bleeding from the ovarian tissue within the testicular capsule. In view of progressive gynaecomastia and future malignant risk, his right ovo-testis was removed after extensive discussions with the family. Sperm counts prior to surgery had shown azoospermia and sperm harvesting was also unsuccessful. He had bilateral prosthesis sited and testosterone replacement commenced.
Conclusion: This case emphasises the complexity involved in the management of such rare conditions and the importance of systematic patient and family centred approach.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology