From the Guidelines
Yes, both parathyroid adenoma and hyperthyroidism can have hereditary components, with parathyroid adenomas occurring as part of genetic syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1) and type 2A (MEN2A), and hyperthyroidism having genetic links, particularly Graves' disease.
Hereditary Components of Parathyroid Adenoma and Hyperthyroidism
The hereditary nature of these conditions is supported by studies such as 1, which notes that most cases of primary hyperparathyroidism (PHPT) are sporadic, although hereditary causes exist, including multiple endocrine neoplasia types 1 and 2A as well as familial hyperparathyroidism.
- About 5-10% of primary hyperparathyroidism cases are hereditary, with genetic syndromes such as MEN1 and MEN2A being the primary causes.
- Hyperthyroidism, particularly Graves' disease, also has genetic links, with people having a higher risk of developing it if they have family members with the condition.
- Genetic testing may be recommended for individuals with a family history of these conditions or if they develop them at a young age.
Screening and Surveillance
For those with hereditary forms of parathyroid adenoma and hyperthyroidism, screening of first-degree relatives (parents, siblings, children) is often advised to detect these conditions early, as seen in studies such as 1 and 1.
- Surveillance for carriers of pathogenic germline variants in CDC73 should begin at age 5–10 years and should include annual biochemical screening for hyperparathyroidism, dental panoramic films every 5 years, and renal ultrasound every 5 years.
- Women of reproductive age are advised to undergo routine gynecologic assessment with uterine ultrasound as clinically indicated.
Conclusion is not allowed, so the answer will be ended here.
From the Research
Parathyroid Adenoma and Hyperthyroidism
- Parathyroid adenoma and hyperthyroidism can be hereditary, with several studies suggesting a familial component to these conditions 2, 3, 4, 5, 6.
- Primary hyperparathyroidism (PHPT) can occur as part of a complex syndrome or as an isolated disorder, and both forms can be familial or nonfamilial 3.
- Familial syndromes that can result in PHPT include multiple endocrine neoplasia (MEN) types 1, 2A, and 4, hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia (FHH), and neonatal severe PHPT 4.
Genetic Basis
- The genetic basis of these syndromes has been identified, with MEN1 caused by abnormalities of the MEN1 gene, MEN2 and MEN3 due to mutations of the rearranged during transfection (RET) proto-oncogene, and HPT-JT due to mutations of cell division cycle 73 (CDC73) 3.
- Nonsyndromic PHPT may also be due to MEN1, CDC73, or calcium-sensing receptor (CASR) mutations 3.
- Genetic testing is available and can help in making the correct diagnosis and planning the management of these complex disorders associated with parathyroid tumors 3, 5.
Familial Cases
- A study described a family in which four members developed cystic parathyroid adenomas, suggesting a distinct hereditary syndrome 2.
- Another study reported a case of familial isolated parathyroid adenoma in a consanguineous family, with two brothers affected and no other family members affected 6.
- These cases highlight the importance of considering a familial component in the diagnosis and management of parathyroid adenoma and hyperthyroidism 2, 6.