ncpendmet0718s5

							Supplementary Table 3 The major clinical features of the MEN1, MEN2, HPT-JT and FBHH
syndromes.

Syndrome     Tumor                           Clinical features                    Investigations

MEN1
                                             Polydipsia and polyuria, fatigue,    Hypercalcemia and
             Parathyroid                     renal calculi, osteoporosis, bone    hyperparathyroidism
                                             pain, constipation
             Pituitary
                         Prolactinoma        Amenorrhoea, galactorrhoea           Hyperprolactinemia
                                             impotence
                         Somatotrophinoma    Hypertension, acral enlargement      Raised levels of insulin-like
                                                                                  growth factor I
                     Corticotrophinoma       Truncal obesity, hypertension,       Hypercortisolemia and
                                             glucose intolerance                  raised levels of
                                                                                  adrenocorticotropic hormone
             Enteropancreatic
                     Gastrinoma              Peptic ulcers, steatorrheoa          Raised levels of gastrin and
                                                                                  increased basal gastric acid
                                                                                  output
                         Insulinoma          Neuroglycopaenic symptoms            Hypoglycemia and
                                                                                  hyperinsulinemia

                         VIPoma              Watery diarrhoea, hypokalaemia,      Raised levels of VIP
                                             achlorhydria (WDHA syndrome)
                     Glucagonoma             Glucose intolerance                  Raised levels of glucagon
             Other tumors
                     Facial angiofibroma     Cutaneous lesions                    Nil
                     Collagenoma             Cutaneous lesions                    Nil
                     Lipoma                  Fatty tissue lumps                   Nil
MEN2
             Parathyroid                     Polydipsia and polyuria, fatigue,    Hypercalcemia and
                                             renal calculi, osteoporosis, bone    hyperparathyroidism
                                             pain, constipation
             Medullary thyroid carcinoma     Lump in neck, diarrhoea              Hypercalcitoninemia

             Phaeochromocytoma               Hypertension with headaches,         Raised levels of
                                             sweating, palpitations,              catecholamines
HPT-JT
             Parathyroid                     Polydipsia and polyuria, fatigue,    Hypercalcemia and
                                             renal calculi, osteoporosis, bone    hyperparathyroidism
                                             pain, constipation
             Ossifying jaw fibroma           Jaw tumor                            Orthopantogram; CT or MRI
             Uterine                         Menorrhagia, miscarriages            Ultrasound, CT or MRI
             Renal hamartoma                 Abdominal pain                       Ultrasound , CT or MRI
FBHH
             Nil (rarely parathyroid         Generally asymptomatic and failure   Hypercalcemia, 24 h
             adenoma or hyperplasia)         of hypercalcemia to resolve          calcium:creatinine clearance
                                             following parathyroidectomy          ratio <0.01

Abbreviations: FBHH, familial benign hypocalciuric hypercalcemia; HPT-JT, hyperparathyroidism
jaw-tumor; MEN, multiple endocrine neoplasia; VIP, vasoactive intestinal peptide.