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Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11 and GATA3 Mutations.

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[The single centre experience - from Recklinghausen to the present].

N G Mokrysheva1, R K Salimkhanov1, A K Eremkina1

  • 1Endocrinology Research Centre.

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|November 14, 2025
PubMed
Summary

Parathyroid glands (PG) research has evolved significantly since the 19th century. Modern advances in mineral and bone pathology offer personalized patient care through innovative diagnostic and treatment methods.

Keywords:
hypoparathyroidismparathyroid glandsprimary hyperparathyroidism

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Area of Science:

  • Endocrinology
  • Mineral and Bone Metabolism

Background:

  • Parathyroid glands (PG) and associated diseases have been studied since the 19th century.
  • Significant evolution in understanding calcium-phosphorus metabolism, diagnostics, and treatments for mineral disorders.
  • Historical research laid the foundation for current advancements.

Purpose of the Study:

  • To provide a historical review of mineral and bone pathology related to parathyroid glands.
  • To highlight the evolution of diagnostic and treatment approaches.
  • To showcase modern achievements in endocrinology using a single center as an example.

Main Methods:

  • Historical literature review.
  • Analysis of anatomical, physiological, morphological, molecular, and genetic aspects of PG.
  • Incorporation of innovative laboratory and instrumental methods.

Main Results:

  • Demonstrated significant changes in the basic principles of calcium-phosphorus metabolism.
  • Showcased advancements in diagnostic methods and treatment options for mineral disorders.
  • Highlighted the impact of interdisciplinary knowledge and innovative technologies.

Conclusions:

  • Recent advances in PG research enable personalized patient care.
  • The historical progression of PG study is crucial for understanding current endocrinology.
  • Continued innovation promises further breakthroughs in mineral and bone pathology.