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[Pseudohypoparathyroidism: genetic aspects].

O A Gerasimenko1, L K Dzeranova1, L Y Rozhinskaya1

  • 1Endocrinology Research Centre.

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|October 2, 2019
PubMed
Summary
This summary is machine-generated.

This review covers pseudohypoparathyroidism (PHPT) genetics, inheritance, and clinical aspects. While type 1 PHPT is common, rarer types (1b, 1c, 2) pose diagnostic and treatment challenges.

Keywords:
genetic aspectshypercalcemiahypoparathyroidismosteoporosispseudo-pseudohypoparathyroidismpseudohypoparathyroidism

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Area of Science:

  • Endocrinology and Genetics
  • Rare Genetic Disorders

Context:

  • Pseudohypoparathyroidism (PHPT) encompasses a group of rare genetic disorders.
  • Type 1 PHPT is frequently encountered, with established diagnostic criteria.
  • Less common subtypes (1b, 1c, and 2) present diagnostic and therapeutic complexities.

Purpose:

  • To provide a comprehensive literature review on pseudohypoparathyroidism (PHPT).
  • To elucidate the genetic basis, inheritance patterns, clinical manifestations, and treatment strategies for PHPT.
  • To highlight the diagnostic and management challenges associated with rarer PHPT subtypes.

Summary:

  • The review details the genetics, inheritance, clinical presentation, and treatment of pseudohypoparathyroidism (PHPT).
  • Type 1 PHPT is generally straightforward to diagnose.
  • Rarer forms of PHPT (types 1b, 1c, and 2), though infrequent, can exhibit significant clinical symptoms and pose diagnostic and treatment difficulties.

Impact:

  • This review serves as a valuable resource for clinicians and geneticists managing PHPT patients.
  • Enhances understanding of the spectrum of PHPT, aiding in the diagnosis of rare subtypes.
  • Informs clinical practice regarding the management of diverse PHPT presentations.