Christopher P. Coppola, Alfred P. Kennedy, Jr. and Ronald J. Scorpio (eds.)Pediatric Surgery2014Diagnosis and Treatment10.1007/978-3-319-04340-1_60
© Springer International Publishing Switzerland 2014
Multiple Endocrine Neoplasia Syndromes
(1)
Department of General Surgery, Geisinger Medical Center, 100 N. Academy Av. MC 21-70, Danville, PA 17822, USA
1.
Multiple endocrine neoplasia type 1 (MEN 1), Wermer syndrome: Pathophysiology:
(a)
Autosomal dominant pattern of inheritance. Caused by mutation in the MEN1 gene. This gene encodes MENIN protein, MENIN acts as a tumor suppressor. Affects 1 in 30,000 people in the United States.
2.
Clinical diagnosis:
(a)
Parathyroid tumors: Hypercalcemia, altered mental status, lethargy, confusion, anorexia, constipation, nausea, vomiting, dehydration, hypercalciuria, kidney stones, increased bone resorption, hypertension, shortened QT interval.
(b)
Pituitary tumors:
(i)
Prolactinoma: Oligomenorrhea or amenorrhea and galactorrhea in females, sexual dysfunction and gynecomastia in males, headache, nerve compression.
(ii)
ACTH-secreting tumors: Cushing’s disease.
(iii)
GH-secreting tumors: Gigantism and acromegaly.
(c)
Neuroendocrine tumors:
(i)
Zollinger-Ellison (gastrinoma): Peptic ulcer and chronic diarrhea.
(ii)
Insulinoma: Hypoglycemia.
(iii)
Glucagonoma: Hyperglycemia, anorexia, glossitis, anemia, diarrhea, venous thrombosis, necrolytic migratory erythema.
(iv)
Vasoactive intestinal peptide secreting tumor (VIPoma): Watery diarrhea, hypokalemia and achlorhydria.
(d)
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Other tumors:
(i)
Facial angiofibromas.
(ii)
Collagenomas.
