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)

A 63-year-old female presented with the extremely rare occurrence of an aldosterone-secreting adrenocortical adenoma as part of the syndrome of multiple endocrine neoplasia type 1 (MEN1). Only two other MEN1 patients were reported in the literature with hyperaldosteronism. The patient's MEN1 syndrome consisted of the association of primary hyperparathyroidism due to parathyroid adenoma, a prolactinoma, and a toxic multinodular goiter. Elevated basal and meal-stimulated serum PP levels without demonstrable pancreatic tumor were also found. Genetic analysis of the aldosterone-secreting adenoma with DNA markers localized on chromosome 11 showed loss of heterozygosity in tumor DNA. Since the MEN1 syndrome is caused by loss of the tumor suppressor gene on chromosome 11 in the 11q13 region, it is probable that the same mechanism is associated with the formation of the adrenocortical adenoma.
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PMID:Aldosterone-secreting adrenal adenoma as part of multiple endocrine neoplasia type 1 (MEN1): loss of heterozygosity for polymorphic chromosome 11 deoxyribonucleic acid markers, including the MEN1 locus. 163 57

The association of a toxic multinodular goitre with papillary thyroid carcinoma and primary hyperparathyroidism is very rare. Only one case is reported in the literature, we present the second one. It is a 51 year old woman, who initially presented with a toxic nodular goitre. The diagnosis of primary hyperparathyroidism was made following renal complications and the discovery of papillary thyroid carcinoma was incidental during the surgical treatment of parathyroid adenoma. Whilst the association of those three diseases is exceptional, the coexistence of any two of them is relatively frequent without any known common etiopathogenetis. It is recognised that hyperparathyroidism can be found in hyperthyroid patients, but the diagnosis of hyperparathyroidism in these cases is very difficult. The fortuitous discovery of papillary thyroid carcinoma during parathyroid surgery has already been reported but in most cases it is a microcarcinoma. In patients presenting with hyperthyroidism the risk of an associated carcinoma is generally felt to be negligeable. However, this associations is not rare. The association of primary hyperparathyroidism, hyperthyroidism and papillary carcinoma of the thyroid is rare. However, the authors suggest that the presence of any of the pathologies should trigger a search for the other two.
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PMID:[Toxic nodular goitre associated with papillary thyroid carcinoma and primary hyperparathyroidism]. 1731 88