Late Diagnosis of Ovotesticular Disorders of Sexual Development: A Case Report and Literature Review

Abstract

Background: Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. Ovotesticular disorders of sexual development formerly called true hermaphroditism are the rarest of all types of disorders of sexual development. It refers to individuals who have both ovarian and testicular tissues in the same or contralateral gonad, regardless of their karyotype. Case presentation: Ovotesticular DSDs are usually diagnosed in the pediatric age group. We reported a rare case of ovotesticular DSD in an adult, originally assigned as male gender. He was referred to our service with the complaint of difficulty with sexual intercourse and genital ambiguity. On examination, he was found to have gynecomastia, a female pelvic, a left testicle, micropenis, and proximal hypospadias. A total abdominal hysterectomy with penile reconstruction and left orchidopexy was performed. Hypospadias repair was planned to be done later. We aim to highlight the challenges urologists practising in a poor-resource community face in diagnosing and managing of these cases. Conclusions: Ovotesticular DSD is rare. Diagnosis is usually made clinically supported by laboratory, imaging and histological evaluation. Treatment consists of multidisciplinary management including urologists, gynaecologists, endocrinologists, paediatricians, and psychiatrists. It is important to involve the patient and their family in shared decision-making before surgery or gender assignment.