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37 Cards in this Set
- Front
- Back
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Immunoendocrine Syndromes are what type of disorders? |
Disorders of endocrine deficiency |
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Multiple Endocrine Neoplasia is a disorder of what? |
Disorder of endocrine excess |
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Immunoendocrine syndromes include what two types? |
APS-I - autoimmune polyendocrine syndrome type-1 APS-II - autoimmune polyendocrine syndrome type-2 |
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APS-I Autoimmune polyendocrine syndrome type I includes what criteria? |
1. Cutaneous and mucosal candidal infections 2. Hypoparathyroid 3. Addison's |
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APS-II Autoimmune polyendocrine syndrome type II includes what criteria? |
1. Addison's 2. Hypothyroid 3. DM type 1 (very difficult to manage - need to give glucocortiods to a type I diabetic) |
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APS-I - typically presents at what age? - how does it present? |
Age 3-5 years Candidiasis (t-cell defect) usually presents first (chronic) Hypoparathyroid next (Ca+ deficiency) - carpopedal spasm, paresthesia, seizure, laryngospasm, leg cramps Then adrenal deficiency |
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APS-II - present at what age - how does it present? |
ages 30-40 F:M 3:1 50% of time adrenal insufficiency is the initial abnormality - darkening of skin, vitiligo, hypotension, hypoglycemia, hyponatremia - ovarian failure in 10% of women |
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50% of patients with autoimmune adrenal insufficiency may develop APS-II They should be screened for what? |
Thyroid disease Diabetes |
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What is multiple endocrine neoplasia characterized by? |
Hereditary syndromes - aberrant growth of benign or malignant tumors in several of the endocrine glands |
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MEN-I most common tumor presentation |
(PPPF) Pituitary Parathyroid Enteropancreatic Facial angiofibromas |
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MEN-2A most common tumor presentation |
(MEN-2A will PiMP u) Parathyroid Medullary thyroid carcinoma Pheochromocytoma |
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MEN-2B most common tumor presentation |
(MEN-2B PiMP'M) Parathyroid tumor (rare) Medullary thyroid carcinoma Pheochromocytoma Mucosal and GI Ganglineuromas |
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MEN-1 is an inherited ________ __________ trait. It is identified where and appraise to function as what |
Autosomal dominant Chromosome 11 Tumor-suppressor gene |
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MEN-1 Clinical manifestations: Most common? 2nd most common? |
Hyperparathyroidism Enterpancreatic Tumors Pituitary adenoma Most: hypercalcemia presentation 2nd most: Pancreatic islet cell tumors - Gastrinoma - Glucagonomas (hyperglycemia) - Insulinomas (hypoglycemia) |
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Physical exam to diagnose MEN-I depends onwhat? |
Glands involved and hormones secreted |
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Physical exam might reveal what? Hyperparathyroidism? Glastrinoma? Insulinoma? Glucagonoma? Pituitary tumors? |
1. hypercalcemia/bone abnormalities 2. diarrhea, abdominal pain due to peptic ulcers and esophagitis 3. Hypoglycemia 4. hyperglycemia, erythema, anemia, diarrhea, venous thrombosis 5. headaches, visual field defects, commonly secrete prolactin, |
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Labs for MEN-I? |
Gastin levels - gastinoma Hypoglycemia/Hyperglycemia Elevated serum insulin Elevated C peptide Elevated proinsulin concentrations Pituitary tumors - hormone excess Adrenal adenomas - hypokalemia |
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What imaging studies may be used to help diagnose MEN 1? |
Gastrinomas - somatostatin receptor scintigraphy Insulinomas - MRI/CT Pituitary tumors: MRI |
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What is treatment for MEN I? Hypercalcemia Gastrinoma Insulinoma Glucagonoma Pituitary tumors |
Hypercalcemia - surgery - removal of 3.5 parathyroid glands Gastrinoma - PPI Insulinomas - Surgery Glacatinomas - surgery Pituitary tumors Prolactinoma - dopamine agonist-bromocriptine GH/ACTH: Trans-shenoidal surgery |
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MEN2 is an inherited autosomal __________ trait What gene is this related to? |
Dominant RET gene |
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What is the presentation process in MEN2? |
Medullary thyroid carcinoma - mild/mod aggressive in MEN 2A - aggressive and presents early in MEN 2B Pheochromocytoma - 50% (more in MEN 2B) Hyperparathyroidism 25% MEN 2A RARE MEN 2B |
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What are the clinical manifestations of MEN 2A? |
Medullary Thyroid cancer Pheochromocytoma Hyperparathyroidism |
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What are the clinical manifestations of MEN 2B? |
Medullary thyroid cancer Pheochromocytoma Marfanoid Habitus Mucosal Neuromas Ganglioneuromatosis of bowel |
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Medullary thyroid carcinoma will present as what? |
One or more firm nodules, often associated with enlarged lymph nodes |
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Pheochromocytoma will present as what? |
HTN sweating palpitations tachycardia headache emotional lability nausea vomiting polyuria polydipsia |
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What is marfanoid phenotype(MEN2B)? |
slender body build long and thin extremities abnormal laxity of joints high-arched palate pectus excavatum pes cavus |
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Neuromas in MEN2B may be found where? |
Lips Tongue Eyelids Cornea |
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Ganglioneuromas in MEN2B may occur where? |
at any level of the GI tract (constipation or diarrhea) |
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What lab studies will elevate with medullary thyroid carcinoma? |
Calcitonin levels |
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What tests can be done to check for pheochromocytoma? |
Labs: Total urine catecholamine secretion Watery diarrhea syndrome - elevated serum levels of vasoactive intestinal polypeptide Radiology: CT, MRI, Octoscan, PET |
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What is the treatment for MEN2? - thyroid? - pheochromocytoma? |
Total thyroidectomy depends on the type of mutation - MEN2B - ASAP (within first year of life) - MEN2A - < 5 years of life Pheochromocytoma - surgical excision - under alpha-adrenergic blockage |
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Follow-up Inpatient care for MEN: After parathyroid surgery: |
Monitor - calcium, magnesium, phosphorus levels - calcium and vitamin D suppplementation - prolonged hypocalcemia - rarely |
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somatostatin is given to who after surgery? |
patients with acromegaly whom surgery did not achieve complete tumor removal |
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Follow-up for medullary thyroid carcinoma |
measure serum calcitonin levels every 6-12 months following surgery |
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The resection of one endocrine tumor does what for treatment of MEN? |
Does not exclude the occurrence of a second tumor Patients need lifelong surveillance, as do their offspring |
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How is pheochromocytoma monitored? |
Blood pressure Plasma catecholamine/metanephrine measurements |
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What is Prognosis of: MEN1 MEN2A MEN2B |
MEN1: - good in the presence of discrete parathyroid and pancreatic islet disease or pit. adenoma. - pancreatic islet cell carcinoma and carcinoids are slowly progressive MEN2A: - generally good upon prophylactic thyroidectomy MEN2B: - worse prognosis than MEN2A - worse thyroid cancer prognosis |
