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[Pseudohypoparathyroidism: a familial case]

A M Rodríguez Hernández1, F Mera Velasco, E R García-Andrade

  • 1Servicio de Cirugía Ortopédica, y Traumatología, Hospital Materno Infantil, Las Palmas de Gran Canaria.

Anales De Medicina Interna (Madrid, Spain : 1984)
|January 1, 1993
PubMed
Summary

Pseudohypoparathyroidism is a rare disorder causing low calcium levels despite high parathyroid hormone (PTH). This family study highlights the occasional detection of this condition across generations.

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Area of Science:

  • Endocrinology
  • Genetics
  • Rare Diseases

Background:

  • Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterized by hypocalcemia and hyperphosphatemia despite elevated parathyroid hormone (PTH) levels.
  • Clinical manifestations vary, with subtypes classified based on urinary cyclic AMP (cAMP) excretion, Albright's osteodystrophy, and PTH responsiveness.
  • PHP often presents sporadically, making familial investigations crucial for understanding its inheritance patterns.