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Related Concept Videos

The Parathyroid Glands00:59

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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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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Heritability01:06

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Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
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The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
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Related Experiment Video

Updated: May 23, 2025

Establishment of a Simple and Effective Rat Model for Intraoperative Parathyroid Gland Imaging
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Heritable hyperparathyroidism: Genetic insights and clinical implications.

Ashna Grover1, Smita Jha2

  • 1Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Best Practice & Research. Clinical Endocrinology & Metabolism
|March 8, 2025
PubMed
Summary

Familial hyperparathyroidism (FHPT) affects 10-15% of primary hyperparathyroidism (PHPT) patients. This review covers FHPT

Keywords:
Birt Hogg DubéGCM2Jaw tumor syndromePTHZFXcalcium sensing receptormultiple endocrine neoplasiasparathyroid tumors

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Area of Science:

  • Endocrinology
  • Genetics
  • Hereditary Diseases

Background:

  • Familial or heritable hyperparathyroidism (FHPT) accounts for 10-15% of primary hyperparathyroidism (PHPT) cases.
  • Consider FHPT in PHPT patients with a family history, early onset, multiglandular disease, or recurrent/persistent disease.

Purpose of the Study:

  • To review the various heritable forms of primary hyperparathyroidism.
  • To highlight key genetic insights and clinical implications of FHPT.

Main Methods:

  • Literature review of syndromic and non-syndromic forms of FHPT.
  • Analysis of genetic underpinnings and clinical presentations.

Main Results:

  • FHPT includes syndromic forms (e.g., MEN, HJT, BHD) and non-syndromic forms (e.g., FHH, familial isolated hyperparathyroidism).
  • Specific genetic mutations are associated with distinct FHPT subtypes.

Conclusions:

  • Understanding the genetic basis of FHPT is crucial for accurate diagnosis and management.
  • Genetic insights guide clinical decision-making and family screening for heritable hyperparathyroidism.