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 .