SDHD
Associated conditions:
- Endocrine cancer
- Renal/urinary tract cancer
- Sarcoma
- Gastrointestinal stromal tumours
SDHD makes part of an enzyme that helps cells produce energy inside mitochondria and normally holds tumour growth in check. Genetic changes in this gene are associated with a predisposition to paraganglioma and phaeochromocytoma, usually benign tumours near nerves and the adrenal glands, with risk mainly arising when the altered copy is inherited from the father. Knowing your genetic status enables monitoring that catches tumours early.
Conditions linked to SDHD
Endocrine cancer
Endocrine cancers affect hormone-producing glands such as the thyroid, parathyroid, adrenal glands or pancreatic islet cells. Inherited variants can drive tumours in one or more of these glands, so awareness supports periodic hormone testing and imaging to catch changes early.
Renal/urinary tract cancer
Cancers of the kidney and urinary tract develop in the kidneys, ureters or bladder lining. Several inherited variants raise their risk, so carriers may be offered periodic kidney imaging and urine testing to catch tumours early.
Sarcoma
Sarcomas are cancers of connective tissues such as bone, muscle, fat and cartilage. Certain inherited syndromes raise their risk, so awareness supports prompt assessment of unexplained lumps or bone pain and, in some syndromes, imaging surveillance.
