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Related Concept Videos

Hypothyroidism II: Pathophysiology01:23

Hypothyroidism II: Pathophysiology

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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...
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Hyperthyroidism II: Pathophysiology01:27

Hyperthyroidism II: Pathophysiology

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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...
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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.
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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,...
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Bone Disorders01:29

Bone Disorders

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Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
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Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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Related Experiment Video

Updated: May 4, 2026

Generation of Hypoparathyroid Rats via Carbon-Nanoparticle-Assisted Parathyroidectomy
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Hypoparathyroidism-retardation-dysmorphism syndrome.

Kalenahalli Jagadish Kumar1, Halasahalli Chowdegowda Krishna Kumar, Vadambal Gopalakrishna Manjunath

  • 1Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka, India.

Indian Journal of Human Genetics
|December 17, 2013
PubMed
Summary

Sanjad-Sakati syndrome, a rare genetic disorder causing hypoparathyroidism, growth retardation, and facial dysmorphism, is detailed in a case study. The findings highlight a Hindu boy with symptoms consistent with this syndrome.

Keywords:
HinduSanjad-Sakati syndromehypoparathyroidism-retardation-dysmorphism syndrome

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Sanjad-Sakati syndrome (HRD) is a rare autosomal recessive disorder.
  • It is characterized by hypoparathyroidism, growth retardation, and facial dysmorphism.
  • The syndrome is predominantly observed in children of Arab ethnicity from consanguineous unions.

Observation:

  • A 13-year-old Hindu boy presented with symptoms suggestive of HRD syndrome.
  • Key clinical features included hypoparathyroidism, tetany, facial dysmorphism, and developmental delay.

Findings:

  • The patient's clinical presentation was compatible with the diagnostic criteria for Sanjad-Sakati syndrome.
  • This case expands the known ethnic and geographic observations of HRD syndrome.

Implications:

  • This case underscores the importance of recognizing HRD syndrome in diverse populations.
  • Early diagnosis and management are crucial for improving outcomes in affected children.
  • Further research into the genetic basis and broader clinical spectrum of HRD syndrome is warranted.