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

Clin Case Rep. 2024 Apr 4;12(4):e8572. doi: 10.1002/ccr3.8572. eCollection 2024 Apr.

Abstract

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: SDHD gene mutation; glomus tumor; hereditary pheochromocytoma; paraganglioma syndromes.

Publication types

  • Case Reports