This is a genotype with recommended actions if clinically confirmed. In brief:
- Multiple Endocrine Neoplasia Type I (MEN) is a hereditary cancer syndrome caused by MEN1 gene mutations. Manifestations include varying combinations of more than 20 endocrine and non-endocrine tumors.
- Parathyroid tumors, which cause PHPT, are the most common feature and the first clinical manifestation in 90% of individuals with MEN1 with onset typically between ages 20 and 25 years.
- Patients with MEN1 should be managed by a multidisciplinary team consisting of relevant specialists (such as endocrinologist, gastroenterologist, oncologist, clinical geneticist) with experience in the management of endocrine disorders.
- Annual surveillance recommendations include biochemical (phlebotomy), clinical, and non-invasive imaging (such as CT).
- Medical management of manifestations is dependent on tumor type and extent of disease. Most patients will require parathyroidectomy, and prophylactic thymectomy may also be recommended.
The full ClinGen Actionability report about Multiple Endocrine Neoplasia Type I (MEN1) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.