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Adrenal cortical carcinoma
Primary adrenal insufficiency
Congenital adrenal hyperplasia
Multiple endocrine neoplasia
Opsoclonus myoclonus syndrome (NORD)
Pancreatic neuroendocrine neoplasms
Androgen insensitivity syndrome
Polycystic ovary syndrome
Premature ovarian failure
Constitutional growth delay
Growth hormone deficiency
Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
Autoimmune polyglandular syndrome type 1 (NORD)
Thyroglossal duct cyst
Thyroid eye disease (NORD)
Toxic multinodular goiter
Euthyroid sick syndrome
Subacute granulomatous thyroiditis
Adrenal insufficiency: Pathology review
Adrenal masses: Pathology review
Cushing syndrome and Cushing disease: Pathology review
Diabetes insipidus and SIADH: Pathology review
Diabetes mellitus: Pathology review
Hyperthyroidism: Pathology review
Hypopituitarism: Pathology review
Hypothyroidism: Pathology review
Multiple endocrine neoplasia: Pathology review
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Parathyroid disorders and calcium imbalance: Pathology review
Pituitary tumors: Pathology review
Thyroid nodules and thyroid cancer: Pathology review
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MEN 1 (Multiple Endocrine Neoplasia)
MEN 2A (Multiple Endocrine Neoplasia)
MEN 2B (Multiple Endocrine Neoplasia)
Two individuals came in for genetic testing based on recommendations from their primary care physicians. The first one is 24 year old Kurt, who was previously diagnosed with Zollinger-Ellison syndrome and also has an adenoma in one of his parathyroid glands. On the clinical examination, doctors observed that he has gynecomastia. His mother also has parathyroid adenomas. The other one is 19 year old Courtney, who was previously diagnosed with parathyroid hyperplasia and pheochromocytoma. Her father has recently been diagnosed with thyroid medullary cancer.
Although their presentation and family history differ, both people have multiple endocrine neoplasias, or MEN for short. These are a group of inherited diseases which cause tumors to grow in the endocrine glands of the body. The endocrine glands affected in multiple endocrine neoplasia are the pituitary gland, thyroid gland, parathyroid glands, adrenal glands, and the pancreas. So in multiple endocrine neoplasias, there are tumors that form in these glands that lead to overproduction of hormones.
Multiple endocrine neoplasias are caused by genetic mutations in one of two genes: either MEN1 or RET, which codes for receptor tyrosine kinase. For your exams, remember that both of these genes have a dominant inheritance pattern, so only one copy of the mutated gene is needed to get the disease.
Okay, let’s start with the MEN1 gene that is found on chromosome 11 and codes for a tumor suppressor protein called menin, which - under normal circumstances - stops a cell from dividing uncontrollably. MEN1 mutations cause MEN type 1. For your tests, you absolutely have to know that there are three types of tumors associated with MEN type 1: parathyroid, pancreatic, and pituitary.
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