Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a very rare case of ovarian gastrinoma in the context of multiple endocrine neoplasia type I, including primary hyperparathyroidism and Zollinger-Ellison syndrome. Somatostatin receptor scintigraphy revealed the ovarian involvement at an early stage. Oophorectomy led to the final diagnosis and complete healing.
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PMID:Ovarian gastrinoma in multiple endocrine neoplasia type I: a case report. 1117 12

Malignant insulinomas are rare tumors (10% of insulinomas) that often present as mnulticentric macro nodules with multiple liver metastases before diagnosis. We report the case of a 55 year old female with a medical history of severe hypoglycemic attacks for two months. Blood tests showed a decreased value of glycemia (30 mg/dl) associated with increased insulin level (l6 microU/ml) and an increased glycemia/insulinemia ratio of 1.87 supporting the diagnosis of insulinoma. Abdominal CT showed a 1.5 cm mass localized in the head of the pancreas with disseminated hepatic tumors, confirmed as neuroendocrine metastases by biopsy (which proved the presence of a malignant insulinoma). Primary hyperparathyroidism was diagnosed based on mild elevation of calcium (10.4 mg/dl) associated with a high level of PTH (71.2 pg/ml). The coexistence of the two endocrinopathies suggested the presence of type 1 multiple endocrine neoplasia (MEN 1). Because of multiple hepatic masses and liver function impairment, surgery and hepatic artery embolization were not performed. Somatostatin analog therapy was started with symptomatic control in the beginning, but rapid loss of beneficial effect. Finally, systemic chemotherapy with doxorubicin was administered, but the disease was progressive and after three months we decided to stop it. The patient died at home after one month, probably in hypoglycemic coma.
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PMID:Malignant insulinoma with hepatic and pulmonary metastases associated with primary hyperparathyroidism. Case report and review of the literature. 2010 68

Patients with clinical features of MEN 1 without mutations in the menin gene fulfill the criteria of MEN1-like syndrome. Primary hyperparathyroidism (PHP) is the most frequent clinical finding in both syndromes and is usually treated by surgery. However, PHP has been reported to respond to somatostatin analogues (SSA) in MEN 1 patients. 7 patients with PHP in the context of MEN 1-like syndrome (and absence of mutations in the menin gene) were enrolled in the study and treated with SSA for 6 months for the non-PHP disease before parathyroidectomy. Serum ionized calcium, phosphorus, and PTH concentrations, and 24-h urinary calcium and phosphorus excretion were measured before and after SSA therapy. Mean serum ionized calcium, phosphorus, and PTH concentrations did not significantly change after a 6-month course with SSA. SSA scintigraphy did not reveal uptake in the neck region corresponding to the parathyroid adenoma identified at surgery and confirmed at histology. However, immunohistochemistry revealed SS-type 2A receptor in parathyroid tissue samples of 6 out of 7 patients. SSA therapy does not affect calcium-phosphorus metabolism in patients with MEN 1-like syndrome, suggesting that the drug has no role in controlling PHP in these subset of patients.
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PMID:Somatostatin analogues do not affect calcium metabolism in patients with acromegaly and primary hyperparathyroidism [corrected] due to MEN 1-like syndrome. 2097 44

The objective of this study was to describe a multiple endocrine neoplasia type 1 (MEN1) family characterized by primary hyperparathyroidism, in association with acromegaly because of ectopic growth hormone-releasing hormone (GHRH) secretion by a pancreatic neuroendocrine tumor in a young man and with a bronchial carcinoid in his mother. We investigate the clinical, radiological imaging, histopathologic findings, and therapy. An 18-year-old man successfully underwent subtotal parathyroidectomy for primary hyperparathyroidism. A subsequent genetic analysis showed a MEN1 gene mutation. Three years later, acromegaly because of ectopic GHRH secretion was diagnosed (pituitary MRI negative and elevated GHRH levels). A search for an ectopic tumor was unsuccessful and somatostatin analog therapy was started. Successively, scintigraphy with somatostatin analogs (68-Ga-DOTATOC-PET) showed three focal areas in the pancreatic tail. Distal pancreatectomy showed multiple pancreatic neuroendocrine tumors and hormonal status was normalized. Afterwards, the evaluation of the patient's mother, carrying the same mutation, indicated a primary hyperparathyroidism and a 4 cm lung mass. The patient underwent subtotal pneumonectomy and the histological analysis was consistent with the diagnosis of a typical bronchial carcinoid. In conclusion, an atypical phenotype may be recorded in MEN1 families, thus emphasizing the importance of the new imaging and surgical techniques in the diagnosis and treatment of such a rare disease.
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PMID:Growth hormone-releasing hormone-producing pancreatic neuroendocrine tumor in a multiple endocrine neoplasia type 1 family with an uncommon phenotype. 2354 51

Nuclear medicine has been implicated in the diagnosis and treatment of endocrine disorders for several decades. With recent development of PET tracers, functional imaging now plays a major role in endocrine tumors enabling with high performance to their localization, characterization, and staging. Besides 18F-FDG, which may be used in the management and follow-up of endocrine tumors, new tracers have emerged, such as 18F-DOPA for neuroendocrine tumors (NETs) (medullary thyroid carcinoma, pheochromocytomas and paragangliomas and well-differentiated NETs originating from the midgut) and 18F-Choline in the field of primary hyperparathyroidism. Moreover, some peptides such as somatostatin analogs can also be used for peptide receptor radionuclide therapy. In this context, Gallium-68 labeled somatostatin analogs (68Ga-SSA) can help to tailor therapeutic choices and follow the response to treatment in the so-called "theranostic" approach. This review emphasizes the usefulness of these three novel PET tracers (18F-Choline, 18F-FDOPA, and 68Ga-SSA) for primary hyperparathyroidism and neuroendocrine tumors.
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PMID:Novel PET tracers: added value for endocrine disorders. 3087 57

We report a case of a female, born in 1952, diagnosed with a rare Multiple Endocrine Neoplasia type 1 (MEN1) gene variant of uncertain clinical significance (p.Val167Ala) presenting with acromegaly, late-onset primary hyperparathyroidism (PHP) and bilateral adrenal tumors. The diagnosis of acromegaly due to pituitary macroadenoma was confirmed at the age of 45. After a non-radical transsphenoidal resection of the pituitary tumor, with histopathological confirmation of adenoma chromophobe, treatment with long-acting somatostatin analogue was introduced, resulting in successfully normalized both insulin-like growth factor and growth hormone values. Mild hypercalcemia was discovered for the first time during endocrinological follow-up at the age of 56, with elevated parathyroid hormone level and increased urine excretion of calcium. 99mTc-MIBI single-photon emission computed tomography/computed tomography showed no typical focal accumulation of the tracer, only an increased uptake in the topography of the upper right parathyroid. The radiological image of the hypothalamic-pituitary area remained stable since medical treatment implementation: pituitary magnetic resonance imaging showed the remnants of the pituitary gland, less than 1 mm in diameter, at the bottom of the sella turcica and two hypointense masses enhancing heterogeneously after contrast administration: 11x8x13 mm in the right lateral part of the turkish saddle and a similar 7x4x5 mm lesion on the left, in direct proximity to cavernous sinuses. Low density 25x16x21 mm tumor in the right adrenal gland and a similar 13 mm focal lesion in the left adrenal were confirmed in abdominal computed tomography. Endocrinological evaluation detected no abnormal hormonal function of the adrenal tumors. Sanger sequencing confirmed the MEN1 variant p.Val167Ala - a missense variant registered in NCBI dbSNP under the accession number rs748648909. In NCBI ClinVar, it was summarized to be of uncertain clinical significance (RCV000632131.2). So far, this variant has not been described in HGMD and UMD-MEN1 databases. Multiple neuroendocrine neoplasia type 1 is a rare genetic disorder with an autosomal dominant inheritance. 1336 MEN1 gene sequence abnormalities were described in only 10 years following the identification of the gene. The phenotype-genotype correlation among MEN1 patients in terms of tumor localization, age of onset and clinical aggressiveness has not been established yet. Further follow-up of the patient and cascade screening of her family members should be carried out to determine the clinical significance of the variant p.Val167Ala.
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PMID:Acromegaly and late-onset primary hyperparathyroidism in a female with a rare MEN1 gene variant of yet undetermined clinical significance (p.Val167Ala). 3312 95


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