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)

Hyperparathyroidism during pregnancy is diagnosed in 0.5-1.4% women and poses a serious challenge. Symptoms of primary hyperparathyroidism (PHP), namely fatigue, lethargy and proximal muscle weakness, are unspecific and could be mistaken as complaints naturally present during pregnancy. Thus, diagnosis is usually delayed. Moreover, the complications of PHP are very common. They occur in 67% of mothers and even in up to 80% of progeny. Appropriate management is a matter of debate. According to clinical symptoms, biochemical evaluation and trimester of pregnancy an operation or conservative management should be introduced. The recognition and understanding of the illness is therefore vital. Due to the lack of unequivocal guidelines concerning pregnancy and PHP, in this review we will analyze recent findings to facilitate proper proceedings.
Ginekol Pol 2017
PMID:Primary hyperparathyroidism in pregnancy - a review of literature. 2858 May 74

Changes in sensitivity to insulin occur in the course of a number of endocrine disorders. Most of the hormones through their antagonistic action to insulin lead to increased hepatic glucose output and its decreased utilisation in peripheral tissues. Carbohydrate disorders observed in endocrine diseases result from the phenomenon of insulin resistance, and in some cases also a reduction in insulin secretion is present. Abnormalities of glucose metabolism are observed in acromegaly, but also in growth hormone deficiency, hypercortisolism in the course of Cushing's syndrome, hyper- or hypothyroidism, primary hyperparathyroidism, aldosteronism, pheochromocytoma, congenital hypertrophy of the adrenal glands, polycystic ovaries syndrome, hypogonadism, or other hormonally active neuroendocrine tumours. They are of a secondary nature in relation to impaired hormonal balance. Hyperglycaemia is therefore often reversible, and the most effective method of treatment of impaired insulin sensitivity is successful therapy of specific endocrinopathies. Insulin sensitisers, also with a good effect, are used. Most experiences to date can be attributed to metformin therapy. Attempts have been made at treatment with other agents that are also effective in reducing insulin resistance as incretins or glitazones. In the presented paper, the authors reviewed endocrine diseases in which there is a clinically significant change in insulin sensitivity. Moreover, methods of therapy of concomitant disturbed glucose metabolism were presented.
Endokrynol Pol 2017
PMID:Insulin resistance in endocrine disorders - treatment options. 2866 Sep 91

Primary hyperparathyroidism is one of the most common endocrine diseases, however, it is rare in children. In most cases, it is caused by adenoma of these organs. Its most common complications include urolithiasis, nephrocalcinosis and osteoporosis.
Pol Merkur Lekarski 2018 Apr 23
PMID:[Recurrent urolithiasis as a symptom of primary hyperparathyroidism in a 16-year-old boy]. 2977 51

Parathyroid hyperactivity is the state of over-production and PTH secretion [1]. The most common cause of primary hyperparathyroidism is parathyriod adenoma - about 80% of cases, the remaining are parathyroid hyperplasia around 15%cases [2] [3], and in 1-5% of cases, cancer [2] [3] [4] [5]. The disease is diagnosed inabout 40 people in 100,000 [5] [6] [3] [7]. The most common cause of adenoma is the mutation in gene MEN 1. Less than 5% of cases are chronichyperparathyroidism, which is a component of the MEN 1 MEN 2a endocrine adenocarcinoma syndrome [1]. Excess PTH in the body leads to increased mobilization of calcium from the bones, and henceincreased osteolysis, what also increases the absorption of calcium from thedigestive system, as well as an increased amount of phosphate excretion in the urine. Clinical picture of the disease is multiform and often runs in a latent form. Most often the diseaseoccurs in the form of osteoporosis, chronic recurrent kidney stones, and is also commonpyelonephritis on the basis of urolithiasis. The disease may be accompanied by: dysphagia, abdominal pain, metallic taste in the mouth, persistent constipation. In addition, from the systemnervous: dizziness and headaches, disturbances of consciousness. Arrhythmia the form of additional contractions and paroxysmal tachycardia. Osteolysis, osteoporosis and pathological fractures [1]. The purpose of this article is to bring closer to the reader case of 33 years old woman with primary hyperparathyroidism on the adenoma.
Pol Przegl Chir 2019 Sep 12
PMID:Primary hyperparathyroidism on the example of a 33-year-old female patient with parathyroid adenoma. 3275 98

Primary hyperparathyroidism is an endocrine disorder that results in overproduction of parathyroid hormone by overactivated parathyroid gland leading to a significant rise in blood serum calcium. It results in hypercalcaemia, which has a significant impact mainly on the kidneys and bones and results in a variety of signs and symptoms. Primary hyperparathyroidism should be treated because, if left without any therapy, it can lead even to death. Surgery is considered as the best and only successful therapy, with very low risk of recurrence and relatively low complication rate. The aim of this review is to present clinical basis, aetiology, diagnostic possibilities, and treatment opportunities.
Endokrynol Pol 2020
PMID:Primary hyperparathyroidism. 3279 71

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.
Endokrynol Pol 2020 Oct 30
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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