Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing

Abstract

Key Clinical Messages The newly published clinical consensus guideline on the management of PGL/PCC is helpful for decision‐making for diagnostics and treatment. Still, the treatment of patients with SDHD gene mutations requires an individual approach and those patients belong to multiprofessional teams. It is often assumed that spouses are genetically unrelated. However, the genetic relationships between spouses should always be examined empathetically and impartially.

Keywords

• glomus tumor
• hereditary pheochromocytoma
• paraganglioma syndromes
• SDHD gene mutation