Occult Leydig Cell Tumour Presenting as Bilateral Gynaecomastia. Case Report and Literature Review

Gynaecomastia is the most common benign breast disorder in men. Among the various causes, testicular malignancies are an uncommon, life-threatening condition requiring prompt diagnosis and treatment. The case of a 28-year-old man is discussed, who presented with a 6-month history of painful bilateral gynaecomastia with no abnormality on clinical or biochemical examination. The patient's symptoms spontaneously resolved within 4 weeks. He then represented 10 years later with similar symptoms and an associated secondary hypogonadism. Ultrasound imaging revealed a clinically occult, hypoechoic mass in the left testis (Leydig cell tumour on histology). Clinical and hormonal findings normalized following surgical excision. This report underlines the importance in clinical practice of ultrasonographic evaluation of the testis, in all patients with gynaecomastia, despite unremarkable findings on physical examination.

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A family with Sertoli–Leydig cell tumour, multinodular goiter, and DICER1 mutation

Current Oncology ◽

10.3747/co.26.4727 ◽

2019 ◽

Vol 26 (3) ◽

Cited By ~ 2

Author(s):

M. G. Haley ◽

P. Bindal ◽

A. McAuliffe ◽

J. Vredenburgh

Keyword(s):

Leydig Cell ◽

Multinodular Goiter ◽

Early Recognition ◽

Adult Population ◽

Cell Cancer ◽

Cell Tumour ◽

Cancer Risks ◽

Leydig Cell Tumour ◽

History Of ◽

Dicer1 Syndrome

Background DICER1 syndrome is an autosomal dominant tumour predisposition syndrome associated with a wide variety of cancerous and noncancerous conditions, including ovarian sex cord–stromal tumours and thyroid conditions, including multinodular goiter. The most common ovarian sex cord–stromal tumour associated with DICER1 syndrome is Sertoli–Leydig cell tumour, with germline DICER1 mutations present in more than 50% of cases. We present a case in which a patient in her late 30s was diagnosed with a Sertoli–Leydig cell tumour in the background of a strong family history of multinodular goiter and Sertoli–Leydig cell tumour with a germline mutation in DICER1.Case Presentation A 38-year-old woman with history of multinodular goiter was found to have stage iiic ovarian Sertoli–Leydig cell cancer after presenting with abdominal pain. She underwent multiple surgeries and chemotherapy. The patient developed rapid disease progression and died 7 months after diagnosis. Seven years earlier, a daughter had experienced the same disease and was found to have a germline DICER1 mutation. The mother had not undergone testing before her own diagnosis.Summary The co-occurrence of Sertoli–Leydig cell tumour and multinodular goiter is highly suggestive of DICER1 syndrome. The recognition of DICER1 syndrome within a family is essential for increased awareness and potential early recognition of complications. Most conditions associated with DICER1 syndrome occur in childhood, and most of the current screening recommendations are specific for childhood and young adulthood. Cancer risks and findings for the adult population are not as well defined. Clinicians who encounter DICER1 syndrome should review recommendations for genetic testing and surveillance and enrol patients in the DICER1 registry.

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