Endocrine Abstracts

Introduction: The prevalence of gynaecomastia ranges between 40-60% and the majority of cases are asymptomatic, commoner among obese and is due to excess circulating oestrogen. Ovo-testicular disorders of sex development (OT-DSD) is one of the rarest disorders of DSDs and commonly presents with bilateral intra-abdominal gonads and ambiguous external genitalia.

Case presentation: A 15 years old male presented with progressively worsening bilateral gynaecomastia over 2 years and delayed puberty leading to school absenteeism. His BMI was 19 kg/m2, height was within the mid-parental range with absent pubic, axillary and facial hair. There was bilateral gynaecomastia (Simon grade 3), normal male external genitalia but a 2 mL testicle in the right scrotum and an absent testicle in the left. No palpable gonad on abdominal examination. Oestradiol was elevated at 494 pmol/l (<102) with normal testosterone 18.5 nmol/l (0.95-21.5), gonadotrophin, prolactin, thyroid functions, alpha fetoprotein and beta human chorionic gonadotrophin. US-scan and CT-scan confirmed left testis (2.1´1.1 cm) in the groin and a right intra-scrotal testis (1.81 cm). The patient underwent left laparoscopic orchidectomy and bilateral subcutaneous mastectomy. Histopathology showed testicular tissue with atrophic seminiferous tubules admixed with normal ovarian tissue without evidence of malignancy. Six weeks post-surgically, both oestradiol (54 pmol/l) and testosterone (10.5 nmol/l) levels were normal. Intra-scrotal gonad was preserved in this patient in his best interest. The patient would be followed up with monitoring for pubertal characteristics, testosterone levels, tumour markers and US-scan of right scrotum.

Conclusions: To the best of our knowledge, all reported cases of OTDSDs had bilateral cryptorchidism. However, in this case, the patient had a significantly higher oestradiol concentration with unilateral cryptorchidism and otherwise normal male external genitalia. Although he has an intra-scrotal gonad, regular surveillance for malignancy would be prudent as the risk of testicular malignancy is much higher among patients with dysgenetic gonads.