A family with Sertoli-Leydig cell tumour, multinodular goiter, and mutation.

Background: 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 syndrome is Sertoli-Leydig cell tumour, with germline 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 .

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 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 syndrome. The recognition of syndrome within a family is essential for increased awareness and potential early recognition of complications. Most conditions associated with 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 syndrome should review recommendations for genetic testing and surveillance and enrol patients in the registry.