817 Loss of Libido in A Man with An Incidental Leydig Cell Tumour Of the Testis: A Rare Tumour Discovered Following an Isolated Common Complaint

Introduction Leydig cell tumours (LCTs) are rare testicular stromal neoplasms classically presenting with a painless testicular mass or swelling in adults. Symptoms secondary to hypogonadism may occur resulting from the hormonal activity of these tumours. Loss of libido is described in LCTs in conjunction with other symptoms; however, no case has reported this as the sole presenting feature. Case report We describe the case of a 42-year-old man presenting to his General Practitioner with loss of libido and no other features suspicious of testicular cancer. Ultrasound performed due to an unrelated epididymal cyst detected an incidental mass confirmed as a benign LCT following radical orchidectomy. Biochemical markers remained normal throughout and following treatment his libido returned to normal. Conclusions This case may serve as a reminder for clinicians to maintain a high index of suspicion for testicular neoplasms in patients with features of hypogonadism in the absence of classical features for testicular cancer.

Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome

DICER1 syndrome is a rare paediatric autosomal dominant inherited disorder predisposing to various benign and malignant tumours. It is caused by a germline pathogenic variant in DICER1, and the second hit for tumour development is usually a missense hotspot pathogenic variant in the DICER1 ribonuclease IIIb domain. While DICER1 predisposing variants account for about 60% of ovarian Sertoli-Leydig cell tumours, no DICER1-related testicular stromal tumours have been described. Here we report the first two cases of testicular stromal tumours in children carrying a DICER1 germline pathogenic variant: a case of Sertoli cell tumour and a case of Leydig cell tumour diagnosed at 2 and 12 years of age, respectively. A somatic DICER1 hotspot pathogenic variant was detected in the Sertoli cell tumour. This report extends the spectrum of DICER1-related tumours to include testicular Sertoli cell tumour and potentially testicular Leydig cell tumour. Diagnosis of a testicular Sertoli cell tumour should prompt DICER1 genetic testing so that patients with a DICER1 germline pathogenic variant can benefit from established surveillance guidelines. DICER1 genetic evaluation may be considered for testicular Leydig cell tumour. Our findings suggest that miRNA dysregulation underlies the aetiology of some testicular stromal tumours.

Ovarian Leydig cell tumor and postmenopausal hirsutism with signs of virilisation

A 71-year-old woman was referred to the endocrinology clinic to investigate postmenopausal hirsutism with 10 years of evolution. She had history of regular menses and menopause with 50 years old. Physical examination showed a male pattern facies, deepening of the voice, androgenic alopecia and hirsutism with a score of 23 according to the modified Ferriman-Gallwey scale. Testosterone and androstenedione were increased. Transvaginal ultrasound, abdominal and pelvic CT showed uterine fibroids with no pathological findings in the adrenals or ovaries. Since she had postmenopausal vaginal bleeding, uterine fibroids and suspicion of an ovarian source for her hyperandrogenism, total hysterectomy and bilateral oophorectomy were performed. Histopathological diagnosis was a Leydig cell tumour located in left ovary and endometrial carcinoma. Improvement of hirsutism was started to notice 1 month after the surgery and she was referred to the oncology clinic for adjuvant treatment.

Hyperandrogenism caused by ovarian Leydig cell tumour: finding the needle in a haystack

Leydig cell tumours (LCTs) of the ovary are rare ovarian tumours that usually present with hyperandrogenism. Conventional radiological imagings are helpful in localising these tumours. However, some tumours may be too small to be localised before curative surgical removal. It is important to identify these androgen-secreting neoplasms which originate mostly from adrenals or ovaries because they are potentially malignant and require specific treatment. When conventional imagings are unrevealing, selective ovarian and adrenal venous sampling (SOAVS) is the next option. We report a case of LCT that was localised by SOAVS after results from other imaging modalities remained inconclusive.

Loss of libido in a man with an incidental Leydig cell tumour of the testis: a rare tumour discovered following an isolated common complaint

Leydig cell tumours (LCTs) are rare testicular stromal neoplasms classically presenting with a painless testicular mass or swelling in adults. Symptoms secondary to hypogonadism may occur resulting from the hormonal activity of these tumours. Loss of libido is described in LCTs in conjunction with other symptoms; however, no case has reported this as the sole presenting feature. We describe the case of a 42-year-old man presenting to his General Practitioner with loss of libido and no other features suspicious of testicular cancer. Ultrasound performed due to an unrelated epididymal cyst detected an incidental mass confirmed as a benign LCT following radical orchidectomy. Biochemical markers remained normal throughout and following treatment his libido returned to normal. This case may serve as a reminder for clinicians to maintain a high index of suspicion for testicular neoplasms in patients with features of hypogonadism in the absence of classical features for testicular cancer.