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MEN - multiple endocrine neoplasia

MEN - multiple endocrine neoplasia. MEN 1 ( Wermer’s sy ) Parathyroid hyperplasia or adenoma Pancreatic islet cell tumour Pituitary hyperlpasia or adenoma rarely: small intestine carcinoid bronchial adenoma adrenocortical adenoma, thyroid adenoma pheochromocytoma

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MEN - multiple endocrine neoplasia

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  1. MEN - multiple endocrine neoplasia

  2. MEN 1 (Wermer’s sy) Parathyroid hyperplasia or adenoma Pancreatic islet cell tumour Pituitary hyperlpasia or adenoma rarely: small intestine carcinoid bronchial adenoma adrenocortical adenoma, thyroid adenoma pheochromocytoma multiple lipomas MEN 2 Medullary thyroid carcinoma (MTC) Pheochromocytoma MEN 2A (Sipple’s sy): additionally parathyroid hyperplasia or adenoma MEN 2B (MEN 3): additionally mucosal and gut neuromas, marfanoid features Classification

  3. MEN 1 („PPP”) Pathogenesis: suppressor gene mutation (chromosome 11q13)  menin protein Autosomal dominant trait Multifocal changes hyperplasia  adenoma  carcinoma

  4. MEN 1 – parathyroid gland (~ 80%) The commonest syndrome manifestation Hyperparathyroidism: • Signs & symptoms of hypercalcaemia •  Cas,  Cau,  intactPTH, hypophosphataemia, hyperphosphaturia Hyperplasia in younger patients, adenomas in older ones

  5. MEN 1 – pancreas (80%) - PP (75-85%) - gastrin (60%, Zollinger-Ellison’s sy) - insulin (25-35%, hypoglycaemia) - VIP (3-5%, Verner-Morrison’s sy) - glucagon (5-10%) - somatostatin (1-5%) - rarely: ACTH, CRH, GHRH, calcitonin-related peptides, neurotensin, GIP - 1/3 of tumours have malignant features Diagnosis: characteristic clinical syndrome, peptide measurement, octreoscan (octreotide + Ind-111) CT, angiography + CT, echoendoscopy, intra-operative US

  6. Zollinger-Ellison’s sy - gastrinoma Islet cell tumour, duodenal wall, malignant in 30% of cases Recurrent peptic ulcer disease, multiple ulcers, non-typical ulcer location, ineffective treatment, diarrhoea, oesophagitis • BAO > 15 mEq/h Gastrin > 500 pg/ml or excessive response after secretin administration

  7. Insulinoma Hypoglycaemia In 1/3 of cases the initial diagnosis is false (epilepsy, other neurological disorders) IRI level inappropriate for glycaemia (IRI > 15 IU/ml, glucose < 45 mg%) 72-h fasting with C-peptide measurement In 10% of cases malignant tumours

  8. Glucagonoma Hyperglycaemia, cachexia, erythema necroliticum migrans, glossitis, anaemia, diarrhoea, thrombotic complications, infections, depression Large tumours, usu. liver metastases on diagnosis VIPoma (Verner-Morrison’s sy) Watery diarrhoea („pancreatic cholera”), hypoglycaemia, hypochlorhydria, metabolic acidosis, hypovolaemia, electrolite disturbances Large tumours, malignant features

  9. MEN 1 – pituitary gland (> 50%) The commonest: prolactinoma (PRL usu. > 200 g/l) GH-secreting adenoma  acromegaly ACTH -secreting adenoma  Cushing’s dis. Exceptionally ectopic production of GHRH, CRH, ACTH causing acromegaly or Cushing’s syndrome

  10. MEN 1 - management • parathyroid surgery first (Ca level > 3.0 mmol/l, kidney stones, nephrocalcinosis, neurological and musculo-skeletal symptoms, low BMD) • pancreatic tumours secreting insulin, glucagon, VIP, GHRH, CRH  surgery • gastrin secreting tumours: surgery, omeprazole • somatostatin analogues: carcinoid, VIPoma, glucagonoma • diazoxide (Proglicem): insulinoma • aminogluthetimide, bilateral adrenalectomy: ectopic ACTH production • treatment of liver metastases • Transsphenoidal pituitary surgery (TPS), bromocriptine (PRL), somatostatine analogues (GH), radiotherapy

  11. MEN 2A MTC – most commonly (97%) pheochromocytoma (50%) hyperparathyroidism (30%) MEN 2B no hyperparathyroidism, marfanoid features (arachnodactyly, long limbs, thoracic kyphosis, pectus excavatum, pectus carinatum, pes cavus, high palate) Neuromas of the tongue, under eyelids, of the gut PATHOGENESIS: protooncogen c-ret mutation (chromosome 10q11.2) in 93-95% of cases, autosomal dominant trait

  12. MEN 2 - management Screening studies of the patient’s family1. mutation c-ret (+)  prophylactic thyroidectomy: protection from MTC  pentagastrin stimulation test every 12 months to detect C cell hyperplasia; if abnormal  thyroidectomy 2. Metoxycatecholamines in urine 3. Cas and intact PTH level every 2-3 years

  13. MEN 2 - management Management of MTC Familial MTC: multifocal growth, total thyroidectomy with lymph node removal, paliative neck irradiation or chemotherapy, optimal management: prophylactic thyroidectomy in asymptomatic mutation carriers (before 6 yrs. of age) Management of pheochromocytoma Adrenal tumour surgery before surgical treatment of MTC or hyperparathyroidism

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