Long-term outcomes in ovotesticular DSD: insights from a single-centre Indian cohort

Ovotesticular disorders of sex development (OT-DSD) are rare disorders that constitute ∼5 % of all DSDs. Data on long-term outcomes with respect to gender identity, gonadal malignancy, pubertal/adulthood gonadal and sexual functions are scarce.

This retrospective study, reports the long-term outcomes of patients with OT-DSD from a single centre in western India.

Fifteen patients (14: 46XX, 1: 46XX/46XY) with atypical genitalia and diagnosed as OT-DSD (unilateral-OT with contralateral ovary: 8, bilateral-OT: 3, lateral gonads: 4) were followed up for a median duration of 8.25 (2.1-28) years. 14/15 patients underwent gonadectomy (bilateral in 4). Sex of rearing was male in 14, and none reported gender incongruence/dysphoria. Nine adult males had varied concerns, including gynecomastia (n=9), periodic hematuria (n=3), periodic abdominal pain (n=3), acute abdomen (n=1), hypogonadism requiring testosterone replacement (n=8), genitoplasty-related complications (n=3; urethral fistula in one and poor urine stream requiring intermittent catheterisation in two), short stature [median final height SDS: -2.3 (-3.0 to -0.5)]. Two males reported having sexual relationships. Overall gonadal malignancy rate was 6.6 % (1/15), it was seen in the only patient raised as female (46, XX) who presented at 20.7 years with a right adnexal mass (dysgerminoma from the ovotestes) and primary amenorrhoea. She underwent right gonadectomy and is currently on estrogen and progesterone replacement.

Majority of patients with OT-DSD were reared as males and had a male gender identity, most had short final height and adulthood hypogonadism. Although the risk of gonadal malignancy is low, it cannot be ruled out even in 46XX karyotype. These observations will help in counselling families with affected members.