The Joint Annual Scientific Meetings of the Endocrine Society of Australia and the Society for Reproductive Biology 2018

SDHB mutation presenting with spermatic cord and neck paraganglioma (#191)

Caroline Bachmeier 1 , Leslie Kuma 2 , Michael Collins 3 , Kunwarjit Sangla 1
  1. Endocrinology and Diabetes, Queensland Health, Townsville Hospital, QLD, Australia
  2. Pathology Queensland, Queensland Health, Townsville Hospital
  3. Radiation oncology, Queensland Health, Townsville Hospital

Paragangliomas (PGL) are rare neuroendocrine tumours often associated with hypersecretion of catecholamines, and are found along the sympathetic chains or parasympathetic paraganglia. PGL can occur in the context of hereditary syndromes and commonly with succinate dehydrogenase (SDH) complex mutations. PGL of the spermatic cord or testes are extremely rare and reports of synchronous spermatic cord and neck PGL have not been reported before. In previous cases of spermatic cord PGL screening for an underlying genetic cause was not performed apart from one case where the patient was positive for a succinate dehydrogenase subunit D mutation.

We report the case of a 55 year old man with a one year history of dysphonia resulting in radiological diagnosis of a right vagal PGL treated with radiation. Laboratory investigations excluded a secretory PGL. Simultaneously he was diagnosed with a positron emission tomography avid testicular mass. An orchidectomy histologically confirmed a spermatic cord PGL. Genetic testing was positive for a heterozygous germline variant c.380T>G, p.(IIe127Ser) within exon 4 of the succinate dehydrogenase subunit B (SDHB) gene which has not been reported with spermatic cord PGL before.

This case reports the synchronous occurrence of a spermatic cord and neck PGL with SDHB mutation. It highlights the necessity for clinicians to screen patients with PGL for an underlying genetic aetiology, even if found in unusual locations, as this has significant implications for future treatment, screening and family planning.