LATE DIAGNOSIS OF OVO-TESTICULAR DISORDER

Abstract

INTRODUCTION
Ovo-testicular disorder of sex development (OT-DSD), formerly known as true hermaphroditism is a rare condition characterized by the presence of both ovarian and testicular tissue in an individual.

CASE
A 16-year-old Malay, female, was initially referred at the age of 9 years for further evaluation of ambiguous genitalia. She was born with ambiguous genitalia and was raised as a female. However, the family defaulted follow-up due to logistic issues. She had no history to suggest adrenal crises or progressive skin hyperpigmentation. Clinically, she was short and underweight for age (<3rd percentile), not dysmorphic, with normal hydration. Detailed genital examination revealed penoscrotal hypospadias with no palpable gonads. Biochemically, 17-OHP was normal, testosterone was elevated with evidence of germ cell failure having elevated LH and FSH. Her chromosomal analysis revealed 2 populations of cells: 46,XX (27) – 77% and 46,XY (8) – 23%. PCR-based molecular analysis for the SRY gene confirmed the absence of SRY gene. Genitogram at 10 years old showed no demonstrable urogenital fistula. She underwent diagnostic laparoscopy and HPE. The right gonads showed features consistent with ovotestis (true hermaphrodites) and left gonad features compatible with streak gonads. Her serial hormonal workups showed primary gonadal failure with elevated FSH (51.44) and LH (14.86) with low testosterone (<0.087) and estradiol (<18.35). She was started on estradiol valerate while waiting for her vaginal construction operation.

OT-DSD is rare and most reported cases occurred in individuals with 46,XX karyotype. However, 46,XY and mosaic karyotypes (46,XX/46,XY) have also been observed.

CONCLUSION
Early and accurate diagnosis is essential for optimal management requiring a multidisciplinary approach including endocrinologists and surgeons.