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lüll The syndrome of gastric carcinoid and hyperparathyroidism: a family study and literature review Christopoulos C; Balatsos V; Rotas E; Karoumpalis I; Papavasileiou D; Kontogeorgos G; Dupasquier S; Calender A; Skandalis N; Economopoulos PEur J Endocrinol 2009[Apr]; 160 (4): 689-94OBJECTIVE: To present evidence supporting the hypothesis that the coexistence of gastric carcinoids (GCs) and hyperparathyroidism may represent a distinct clinical entity, not related to multiple endocrine neoplasia type 1 (MEN1). METHODS: We studied a cohort of five young siblings (age range 26-42 years), one of whom had been found to have GC and hyperparathyroidism. All siblings underwent serial gastroscopies for the assessment of gastric neuroendocrine cell proliferations over a mean follow-up period of 31.2 months. Imaging, biochemical and hormonal as well as molecular genetic investigations were performed in the direction of MEN1 syndrome. The literature was searched for cases with coexistence of GCs and hyperparathyroidism not associated with MEN1. RESULTS: Four of the siblings, all male, were found to have GCs in a background of Helicobacter pylori-associated chronic atrophic gastritis and pernicious anaemia, with no serological evidence of gastric autoimmunity. In two of them, asymptomatic hyperparathyroidism was also present. Screening for MEN1 gene mutations or large deletions was negative, and hormone and imaging investigations did not support a diagnosis of familial MEN1 syndrome. A literature search revealed sporadic reports of cases with GC and hyperparathyroidism not attributable to MEN1. CONCLUSIONS: The association of GCs and hyperparathyroidism appears to constitute a distinct syndrome that can be encountered in genetically predisposed individuals, and should not be regarded as 'atypical' or 'incomplete' expression of MEN1. Its prevalence and aetiology should be the subject of future studies. Screening for hyperparathyroidism seems to be justified in patients with GC of any type.|Adult[MESH]|Carcinoid Tumor/diagnostic imaging/*genetics/*pathology[MESH]|Cell Proliferation[MESH]|Chromogranin A/blood[MESH]|DNA/genetics[MESH]|Endoscopy[MESH]|Enterochromaffin Cells/pathology[MESH]|Female[MESH]|Helicobacter Infections/drug therapy[MESH]|Helicobacter pylori[MESH]|Hormones/blood[MESH]|Humans[MESH]|Hyperparathyroidism/*genetics/*pathology[MESH]|Immunohistochemistry[MESH]|Male[MESH]|Multiple Endocrine Neoplasia Type 1/genetics/pathology[MESH]|Mutation/genetics[MESH]|Pancreas/diagnostic imaging[MESH]|Pancreatic Hormones/blood[MESH]|Pituitary Hormones/blood[MESH]|Stomach Neoplasms/diagnostic imaging/*genetics/*pathology[MESH]|Ultrasonography[MESH] |