An Unusual Clinical and Radiological Presentation of Ovotesticular Disorders of Sex Development with Male and Female External Genitalia: A Case Report

Abstract

Background: Ovotesticular disorders of sex development (ODSD), previously known as true hermaphroditism, is a rare disorder of sexual differentiation that causes ambiguity in external genitalia and the presence of both ovarian and testicular elements in the gonads. The condition is characterised by the existence of testicular tissue with distinctive tubules and ovarian tissue in the same gonad (ovotestis), or separately in an individual. The most common cytogenetic karyotype is 46,XX. The age and presentation of symptoms vary, but typically include hypospadias, urogenital sinus, inguinal hernia, cryptorchidism, and gynaecomastia during the peripubertal age, as well as lower abdominal mass. Case Presentation: A 15-year-old female exhibited typical male genitalia, including a normal penile shaft, scrotal sac, palpable testes, and a urethral opening, with a separate vaginal opening located between the penile shaft and scrotum. Pelvic MRI confirmed the presence of both testes within the scrotal sac and an infantile-sized uterus with a central endometrium, as well as a left-sided ovary in the pelvic region. The right ovary was not seen. Correlative ultrasound confirmed these findings and indicated that the testes had a normal echo texture and vascularity. The patient was diagnosed with ODSD, and further hormonal testing was recommended. Conclusions: ODSD is a rare cause of genital ambiguity. Typically, both paramesonephric and mesonephric duct derivatives are seen, and most of the affected individuals present as neonates or infants with ambiguous external genitalia. At peripubertal age, the symptoms typically include hypospadias, urogenital sinus, inguinal hernia, unilateral or bilateral cryptorchidism, and gynaecomastia. Fertility is not uncommon and has been reported in female-reared patients. The ovotestis is the commonest gonad in people with ODSD and are known to be predisposed to germ cell tumours. Over 500 cases of ODSD have been reported in the literature. Ultrasound is the first line of investigation used to see the pelvic organs. The non-invasive test of choice for detecting paramesonephric and mesonephric duct derivatives is an MRI pelvis. The purpose of this paper is to describe various clinical and radiological features associated with ODSD.