Condition Lookup
Category:
Rare Endocrine Disorders
Number of Conditions: 8
MEN Type 1 - Hypercalcemia
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
fatigue; kidney stones; bone pain; abdominal pain
Root Cause:
Genetic mutation in the MEN1 gene leads to tumor formation in endocrine glands (parathyroid, pituitary, pancreas).
How it's Diagnosed: videos
Genetic testing for MEN1 mutation. Hormonal blood tests (calcium, PTH, prolactin, growth hormone, insulin). Imaging studies (MRI or CT scans of the pituitary, pancreas, and parathyroid glands).
Treatment:
Surgical removal of tumors (e.g., parathyroidectomy, pituitary surgery). Medical management for hormone overproduction (e.g., somatostatin analogs for pancreatic tumors). Regular monitoring for tumor progression.
Medications:
Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism. Dopamine agonists (e.g., cabergoline , bromocriptine ) for prolactinomas. Somatostatin analogs (e.g., octreotide , lanreotide ) for pancreatic neuroendocrine tumors. Proton pump inhibitors (e.g., omeprazole ) for gastrinomas.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 30,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN1 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with early detection and treatment, though tumor recurrence is possible; life expectancy may be reduced without management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Recurrent or metastatic tumors. Severe hypercalcemia leading to kidney damage. Hormonal crises, such as insulinoma-induced hypoglycemia.
MEN Type 1 - Pituitary Adenoma
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
headaches; vision problems; hormonal imbalances
Root Cause:
Genetic mutation in the MEN1 gene leads to tumor formation in endocrine glands (parathyroid, pituitary, pancreas).
How it's Diagnosed: videos
Genetic testing for MEN1 mutation. Hormonal blood tests (calcium, PTH, prolactin, growth hormone, insulin). Imaging studies (MRI or CT scans of the pituitary, pancreas, and parathyroid glands).
Treatment:
Surgical removal of tumors (e.g., parathyroidectomy, pituitary surgery). Medical management for hormone overproduction (e.g., somatostatin analogs for pancreatic tumors). Regular monitoring for tumor progression.
Medications:
Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism. Dopamine agonists (e.g., cabergoline , bromocriptine ) for prolactinomas. Somatostatin analogs (e.g., octreotide , lanreotide ) for pancreatic neuroendocrine tumors. Proton pump inhibitors (e.g., omeprazole ) for gastrinomas.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 30,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN1 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with early detection and treatment, though tumor recurrence is possible; life expectancy may be reduced without management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Recurrent or metastatic tumors. Severe hypercalcemia leading to kidney damage. Hormonal crises, such as insulinoma-induced hypoglycemia.
MEN Type 1 - Pancreatic Neuroendocrine Tumor
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
hypoglycemia; diarrhea; peptic ulcers
Root Cause:
Genetic mutation in the MEN1 gene leads to tumor formation in endocrine glands (parathyroid, pituitary, pancreas).
How it's Diagnosed: videos
Genetic testing for MEN1 mutation. Hormonal blood tests (calcium, PTH, prolactin, growth hormone, insulin). Imaging studies (MRI or CT scans of the pituitary, pancreas, and parathyroid glands).
Treatment:
Surgical removal of tumors (e.g., parathyroidectomy, pituitary surgery). Medical management for hormone overproduction (e.g., somatostatin analogs for pancreatic tumors). Regular monitoring for tumor progression.
Medications:
Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism. Dopamine agonists (e.g., cabergoline , bromocriptine ) for prolactinomas. Somatostatin analogs (e.g., octreotide , lanreotide ) for pancreatic neuroendocrine tumors. Proton pump inhibitors (e.g., omeprazole ) for gastrinomas.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 30,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN1 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with early detection and treatment, though tumor recurrence is possible; life expectancy may be reduced without management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Recurrent or metastatic tumors. Severe hypercalcemia leading to kidney damage. Hormonal crises, such as insulinoma-induced hypoglycemia.
MEN Type 2 - Medullary Thyroid Cancer
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
neck lump; difficulty swallowing; hoarseness
Root Cause:
Mutation in the RET proto-oncogene causes tumor formation in thyroid C-cells, adrenal medulla, and parathyroid glands.
How it's Diagnosed: videos
Genetic testing for RET mutations. Serum calcitonin and carcinoembryonic antigen (CEA) levels for medullary thyroid cancer. Plasma or urine metanephrines for pheochromocytoma. Imaging (ultrasound, CT, or MRI) for tumors.
Treatment:
Total thyroidectomy for medullary thyroid cancer (often prophylactic in high-risk patients). Adrenalectomy for pheochromocytoma. Medical management for blood pressure control in pheochromocytoma (alpha and beta-blockers). Regular follow-ups for new tumor formation.
Medications:
Alpha-blockers (e.g., phenoxybenzamine ) to control blood pressure in pheochromocytoma. Beta-blockers (e.g., propranolol ) used after alpha-blockade to stabilize cardiovascular symptoms. Thyroid hormone replacement (e.g., levothyroxine ) post-thyroidectomy. Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 35,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN2 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early prophylactic thyroidectomy; pheochromocytoma and parathyroid tumors require ongoing management for optimal outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Untreated pheochromocytoma can cause hypertensive crises and cardiovascular complications. Advanced medullary thyroid cancer may lead to metastasis. Persistent hyperparathyroidism can result in long-term kidney damage.
MEN Type 2 - Pheochromocytoma
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
episodic high blood pressure; headaches; sweating; palpitations
Root Cause:
Mutation in the RET proto-oncogene causes tumor formation in thyroid C-cells, adrenal medulla, and parathyroid glands.
How it's Diagnosed: videos
Genetic testing for RET mutations. Serum calcitonin and carcinoembryonic antigen (CEA) levels for medullary thyroid cancer. Plasma or urine metanephrines for pheochromocytoma. Imaging (ultrasound, CT, or MRI) for tumors.
Treatment:
Total thyroidectomy for medullary thyroid cancer (often prophylactic in high-risk patients). Adrenalectomy for pheochromocytoma. Medical management for blood pressure control in pheochromocytoma (alpha and beta-blockers). Regular follow-ups for new tumor formation.
Medications:
Alpha-blockers (e.g., phenoxybenzamine ) to control blood pressure in pheochromocytoma. Beta-blockers (e.g., propranolol ) used after alpha-blockade to stabilize cardiovascular symptoms. Thyroid hormone replacement (e.g., levothyroxine ) post-thyroidectomy. Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 35,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN2 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early prophylactic thyroidectomy; pheochromocytoma and parathyroid tumors require ongoing management for optimal outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Untreated pheochromocytoma can cause hypertensive crises and cardiovascular complications. Advanced medullary thyroid cancer may lead to metastasis. Persistent hyperparathyroidism can result in long-term kidney damage.
MEN Type 2 - Hyperparathyroidism
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
hypercalcemia; kidney stones
Root Cause:
Mutation in the RET proto-oncogene causes tumor formation in thyroid C-cells, adrenal medulla, and parathyroid glands.
How it's Diagnosed: videos
Genetic testing for RET mutations. Serum calcitonin and carcinoembryonic antigen (CEA) levels for medullary thyroid cancer. Plasma or urine metanephrines for pheochromocytoma. Imaging (ultrasound, CT, or MRI) for tumors.
Treatment:
Total thyroidectomy for medullary thyroid cancer (often prophylactic in high-risk patients). Adrenalectomy for pheochromocytoma. Medical management for blood pressure control in pheochromocytoma (alpha and beta-blockers). Regular follow-ups for new tumor formation.
Medications:
Alpha-blockers (e.g., phenoxybenzamine ) to control blood pressure in pheochromocytoma. Beta-blockers (e.g., propranolol ) used after alpha-blockade to stabilize cardiovascular symptoms. Thyroid hormone replacement (e.g., levothyroxine ) post-thyroidectomy. Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 35,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN2 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early prophylactic thyroidectomy; pheochromocytoma and parathyroid tumors require ongoing management for optimal outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Untreated pheochromocytoma can cause hypertensive crises and cardiovascular complications. Advanced medullary thyroid cancer may lead to metastasis. Persistent hyperparathyroidism can result in long-term kidney damage.
Carcinoid Syndrome
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Symptoms:
flushing of the skin; diarrhea; abdominal cramping; heart palpitations; shortness of breath; wheezing; weight loss; skin lesions; edema; carcinoid heart disease (in advanced cases)
Root Cause:
Excessive secretion of serotonin and other vasoactive substances by carcinoid tumors, usually arising in the gastrointestinal tract or lungs.
How it's Diagnosed: videos
Diagnosed through elevated 24-hour urinary 5-HIAA levels and imaging to locate neuroendocrine tumors.
Treatment:
Treatment includes somatostatin analogs (e.g., octreotide), symptom control, and surgical resection or targeted therapies for tumor management.
Medications:
Somatostatin analogs (e.g., octreotide or lanreotide )
Prevalence:
How common the health condition is within a specific population.
Rare; affects approximately 1-2 individuals per 100,000 annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of neuroendocrine tumors, conditions like MEN1 syndrome, smoking, and previous cancer diagnoses.
Prognosis:
The expected outcome or course of the condition over time.
Variable depending on the extent of disease; with localized tumors, 5-year survival exceeds 80%, but metastatic disease lowers survival rates to approximately 30%-50%.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Carcinoid heart disease (fibrotic damage to heart valves). Intestinal obstruction or bleeding from primary tumors. Severe malnutrition due to chronic diarrhea. Hormone crisis during tumor manipulation or anesthesia.
Ectopic ACTH Syndrome
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Ectopic Hormone Secretion Syndromes
Symptoms:
weight gain; muscle weakness; high blood pressure; hyperglycemia; bruising; thin skin; osteoporosis; mood changes; round face (moon facies); abdominal striae (stretch marks)
Root Cause:
Abnormal secretion of adrenocorticotropic hormone (ACTH) by non-pituitary tumors, leading to excessive cortisol production. Commonly associated with small cell lung cancer or other neuroendocrine tumors.
How it's Diagnosed: videos
Laboratory tests to measure ACTH and cortisol levels, high-dose dexamethasone suppression test, imaging studies (CT, MRI, PET scans) to identify the tumor source, and inferior petrosal sinus sampling to differentiate ectopic from pituitary ACTH production.
Treatment:
Surgical removal of the ACTH-secreting tumor, medical therapy to control cortisol levels, radiation therapy, and/or chemotherapy if surgery is not feasible.
Medications:
Medications to manage cortisol levels include metyrapone (steroidogenesis inhibitor), ketoconazole (antifungal with cortisol-lowering effects), or mitotane (adrenolytic agent). In severe cases, mifepristone (glucocorticoid receptor antagonist) may be used to block cortisol effects.
Prevalence:
How common the health condition is within a specific population.
Rare, occurring in approximately 10–20% of cases of Cushing syndrome.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Presence of certain cancers (e.g., small cell lung cancer, pancreatic neuroendocrine tumors), genetic predisposition to endocrine tumors.
Prognosis:
The expected outcome or course of the condition over time.
Prognosis depends on the underlying tumor type, stage, and response to treatment. Early diagnosis and tumor removal significantly improve outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Long-term hypercortisolism can lead to cardiovascular disease, diabetes, infections, osteoporosis, and psychological disorders.