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Related Concept Videos

Hyperthyroidism II: Pathophysiology01:27

Hyperthyroidism II: Pathophysiology

Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH receptors...
The Parathyroid Glands00:59

The Parathyroid Glands

The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by producing...
Hypothyroidism II: Pathophysiology01:23

Hypothyroidism II: Pathophysiology

Hypothyroidism is a disorder characterized by insufficient production of thyroid hormones, which regulate metabolism, energy balance, and multiple organ systems.TypesHypothyroidism is classified based on the level of dysfunction. Primary hypothyroidism results from intrinsic thyroid gland dysfunction, causing reduced hormone production despite normal or increased stimulation. Secondary hypothyroidism arises from inadequate thyroid-stimulating hormone (TSH) secretion by the pituitary. Tertiary...
Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
Hyperthyroidism I: Introduction01:25

Hyperthyroidism I: Introduction

Hyperthyroidism is a type of thyrotoxicosis characterized by the thyroid gland's overproduction of the thyroid hormones triiodothyronine (T3) and thyroxine (T4). This hormone excess increases the basal metabolic rate and enhances sensitivity to catecholamines.DiagnosisDiagnosis is based on clinical features and biochemical testing. It typically shows suppressed thyroid-stimulating hormone (TSH) levels below 0.4 mIU/L, with elevated free T3 and/or T4. Additional tests, including thyroid...
Gastritis II: Pathophysiology01:26

Gastritis II: Pathophysiology

The pathophysiology of gastritis begins with the colonization of the stomach lining by Helicobacter pylori (H. pylori). This bacterium spreads mainly via the oral-oral route through saliva or shared utensils, and can also be transmitted in overcrowded or unhygienic environments through contaminated water, despite its brief survival outside the body.ColonizationOnce ingested, H. pylori enters the stomach and begins colonization by navigating through the mucus layer lining the stomach wall. It...

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Molecular pathogenesis of primary hyperparathyroidism.

F Cetani1, E Pardi, S Borsari

  • 1Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy. cetani@endoc.med.unipi.it

Journal of Endocrinological Investigation
|October 12, 2011
PubMed
Summary

Primary hyperparathyroidism (PHPT), often caused by parathyroid adenomas, involves genetic mutations. Key genes like MEN1, CDKN1B, HRPT2/CDC73, and CASR are implicated in various PHPT forms, from mild familial hypocalciuric hypercalcemia to severe neonatal cases.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Primary hyperparathyroidism (PHPT) is a prevalent endocrine disorder.
  • It is frequently associated with monoclonal parathyroid adenomas.
  • Several hereditary syndromes and genetic mutations underlie different PHPT subtypes.

Purpose of the Study:

  • To review the genetic basis of primary hyperparathyroidism.
  • To elucidate the role of specific genes in both hereditary and sporadic forms of PHPT.
  • To categorize PHPT variants based on underlying genetic mutations.

Main Methods:

  • Literature review of genetic mutations associated with PHPT.
  • Analysis of gene involvement in multiple endocrine neoplasia (MEN) types 1 and 2A.
  • Examination of genetic causes for hereditary hyperparathyroidism-jaw tumor (HPTJT), familial isolated hyperparathyroidism (FIHP), familial hypocalciuric hypercalcemia (FHH), and neonatal severe hyperparathyroidism (NSHPT).

Main Results:

  • Mutations in MEN1 and CDKN1B genes are primary causes of MEN 1 and contribute to sporadic adenomas.
  • HRPT2/CDC73 gene mutations are linked to HPT-JT and parathyroid carcinoma.
  • CASR gene mutations cause FHH (heterozygous) and NSHPT (homozygous).

Conclusions:

  • Genetic mutations play a critical role in the pathogenesis of primary hyperparathyroidism.
  • Understanding these genetic underpinnings is crucial for diagnosing and managing diverse PHPT forms.
  • Specific genes are associated with distinct hereditary syndromes and sporadic cases of PHPT.