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[Pseudo-idiopathic hypoparathyroidism]

J Playán Usón1, A Sanz Paris, M T Bosque Peralta

  • 1Servicio de Endocrinología, Hospital Miguel Servet, Zaragoza.

Anales De Medicina Interna (Madrid, Spain : 1984)
|June 1, 1996
PubMed
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This study presents a rare case of pseudo-idiopathic hypoparathyroidism caused by biologically inactive parathyroid hormone (PTH). The Ellsworth-Howard test helped distinguish this rare condition from other forms of hypoparathyroidism.

Area of Science:

  • Endocrinology
  • Metabolic Disorders

Background:

  • Hypoparathyroidism presents with diverse pathogenic mechanisms, including parathyroid hormone (PTH) deficit, biologically inactive PTH, PTH antagonists, and target tissue defects.
  • Pseudo-idiopathic hypoparathyroidism, resulting from biologically inactive PTH secretion, is an exceptionally rare cause of hypoparathyroidism.

Observation:

  • A 71-year-old male with a history of cataracts presented with hypocalcemia (total calcium 4.82 mg/dl, ionized calcium 2.72 mg/dl) and hyperphosphatemia (serum phosphate 5.30 mg/dl).
  • Intact PTH levels were elevated (83 pg/ml), while osteocalcin and 1.25 di-hydroxycholecalciferol were low.
  • The Ellsworth-Howard test demonstrated a normal urinary response (c-AMP excretion and phosphaturia) to exogenous PTH administration.

Findings:

  • The patient's presentation, particularly the normal response in the Ellsworth-Howard test despite hypocalcemia and elevated PTH, strongly suggested biologically inactive PTH.

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  • This case highlights pseudo-idiopathic hypoparathyroidism as a distinct entity within the spectrum of hypoparathyroid disorders.

    • Implications:

    • Accurate diagnosis of hypoparathyroidism variants is crucial for appropriate management.
    • The Ellsworth-Howard test remains a valuable diagnostic tool for differentiating causes of hypoparathyroidism, especially in distinguishing PTH deficit from biologically inactive PTH.