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Pseudohypoparathyroidism presenting with rickets

J D Wilson, D R Hadden

    The Journal of Clinical Endocrinology and Metabolism
    |November 1, 1980
    PubMed
    Summary
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    Pseudohypoparathyroidism (PHP) causes low calcium and high phosphate. This patient showed rickets-like bone disease due to primary renal resistance to parathyroid hormone (PTH).

    Area of Science:

    • Endocrinology
    • Metabolic Bone Disease

    Background:

    • Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia, hyperphosphatemia, and impaired response to parathyroid hormone (PTH).
    • Some PHP patients exhibit bone disease resembling rickets, suggesting complex pathophysiology.

    Observation:

    • A patient presented with PHP, epiphyseal enlargement, long bone bowing, osteomalacia, pseudofractures, and subperiosteal erosions.
    • Biochemical analysis revealed hypocalcemia, hyperphosphatemia, elevated alkaline phosphatase, and high parathyroid hormone levels.
    • Renal function showed increased tubular reabsorption of phosphate, indicating potential PTH resistance.

    Findings:

    • Intravenous PTH infusion tests demonstrated significantly blunted cAMP and phosphate excretion responses, confirming renal resistance to PTH.

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  • The patient responded to treatment with calciferol and subsequently 1,25-dihydroxycholecalciferol, normalizing serum calcium levels.
  • Bone disease was considered secondary to the primary defect of PTH resistance.

    • Implications:

    • This case highlights that bone disease in PHP can stem from primary renal resistance to PTH.
    • Effective treatment involves vitamin D metabolites, suggesting a therapeutic target for managing PHP-associated skeletal abnormalities.
    • Understanding the interplay between PTH resistance and bone metabolism is crucial for managing PHP patients.