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Related Concept Videos

The Thyroid Gland01:23

The Thyroid Gland

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The thyroid gland is a small, butterfly-shaped gland located in the neck and covers the anterior surface of the trachea. The gland has two lateral lobes connected by a thin tissue mass called the isthmus. Internally, each lobe comprises many small spherical structures known as thyroid follicles, surrounded by a network of blood vessels.
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...
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Synthesis and Regulation of Thyroid Hormones01:20

Synthesis and Regulation of Thyroid Hormones

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Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
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The Parathyroid Glands00:59

The Parathyroid Glands

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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...
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Functions of Thyroid Hormones01:18

Functions of Thyroid Hormones

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The thyroid hormone (TH) plays a pivotal role in the intricate orchestration of physiological processes, exerting profound effects on development, metabolism, and homeostasis throughout different life stages.
TH is indispensable for the normal development and maturation of the skeletal, muscular, and nervous systems during fetal and childhood growth. It facilitates bone mineral turnover and regulates protein synthesis in developing tissues, contributing significantly to overall growth and...
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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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Synthesis and Functions of Calcitonin00:51

Synthesis and Functions of Calcitonin

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Calcitonin, a vital polypeptide hormone, regulates calcium levels within body fluids. It is released by the parafollicular cells, also known as C cells, situated in the follicular epithelium of the thyroid gland. Calcitonin responds to fluctuations in blood calcium levels and the influence of gastrointestinal hormones like gastrin and cholecystokinin.
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
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Spontaneous Murine Model of Anaplastic Thyroid Cancer
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Rare thyroid non-neoplastic diseases.

Katarzyna Lacka1, Adam Maciejewski1

  • 1Department of Endocrinology, Metabolism and Internal Medicine, University of Medical Sciences, Poznan, Poland.

Thyroid Research
|April 25, 2015
PubMed
Summary
This summary is machine-generated.

Rare thyroid diseases, though uncommon, are crucial for endocrinologists to diagnose. Genetic factors are key in many of these conditions, impacting thyroid function and hormone regulation.

Keywords:
Congenital hypothyroidismDysgenesisDyshormonogenesisMutationRare diseaseThyroid glandThyroid hormone resistanceThyroxin binding globulinTransthyretin

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Area of Science:

  • Endocrinology
  • Genetics
  • Rare Diseases

Background:

  • Rare thyroid diseases affect fewer than 1 in 2,000 individuals, encompassing approximately 7,000 distinct rare conditions.
  • These diseases, while not frequent, are encountered in endocrinology practice and necessitate inclusion in differential diagnoses.
  • The focus is on rare non-neoplastic thyroid diseases, highlighting their clinical significance.

Purpose of the Study:

  • To review and discuss rare non-neoplastic thyroid diseases.
  • To emphasize the importance of understanding genetic factors in the etiopathogenesis of these conditions.
  • To provide insights into the normal functioning of the thyroid gland through the study of rare diseases.

Main Methods:

  • Review of congenital hypothyroidism (CH) causes, including thyroid dysgenesis, dyshormonogenesis, and transient forms.
  • Discussion of inherited abnormalities in thyroid hormone binding proteins (TBG, TBP, albumin) and their clinical implications.
  • Exploration of thyroid hormone resistance (RTH), including gene mutations (THRB, THRA) and the concept of reduced sensitivity to thyroid hormones.

Main Results:

  • Congenital hypothyroidism, primarily due to thyroid dysgenesis (85%), requires prompt treatment for psychomotor development.
  • Inherited protein binding abnormalities often lead to lab abnormalities with normal free hormones and euthyroidism.
  • Rare hyperthyroidism causes include TSHR/GNAS mutations and pituitary adenomas; inflammatory/infectious processes like tuberculosis can also affect the thyroid.

Conclusions:

  • Genetic factors are pivotal in most rare thyroid diseases, with many classified as monogenic disorders.
  • Advances in understanding etiopathogenesis are improving knowledge of normal thyroid gland function.
  • Early diagnosis and treatment of conditions like congenital hypothyroidism are vital for patient outcomes.