Endocrine Abstracts

Introduction: Leydig cell tumor is rare, accounting for 1% of testicular tumors. Klinefelter syndrome is most often associated with extra-gonadal germ cell tumors. Its association with testicular tumors remains less frequent. Herein, we report the case of a Leydig cell tumor of the testis in a patient with Klinefelter syndrome.

Observation: A 46-year-old man was referred to our department for hypogonadism. His past medical history included type 2 diabetes. He presented with erectile dysfunction and decreased libido. On physical examination, he had a body weight of 96.5 kg, a height of 175 cm, a body mass index of 31.5 kg/m², no gynecomastia, decreased pubic hair, hypotrophic soft testicles with a hard left nodule, and a penis length of 6.5 cm. Biological investigations showed hypergonadotropic hypogonadism. Estradiol level and tumor markers were normal. Semen analysis showed azoospermia. The karyotype showed a chromosomal formula of 47.XXY. Testicular ultrasound showed bilateral testicular atrophy with a left testicular nodule measuring 9.4×7.4 mm. The patient underwent a left orchidectomy and the histological examination concluded to a benign Leydig cell tumor.

Conclusion: The physiopathology of Leydig cell tumor remains unclear. It is suggested that the elevation of LH in patients with Klinefelter syndrome induces Leydig cell hyperplasia and tumor development. Orchidectomy represents the golden standard therapeutic option. After surgery, a long-term follow-up is indicated to exclude recurrence or metastasis.