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Hypocalcitonemia in Handigodu Disease: a spondylo epi (meta) physeal dysplasia

Mallikarjun Badadani, K Taranath Shetty, Ss Agarwal

    International Journal of Clinical and Experimental Medicine
    |July 8, 2010
    PubMed

    Insights

    Handigodu Disease, a skeletal dysplasia, shows low calcitonin levels linked to decreased calcium and hypocalciuria. This may indicate increased bone resorption, potentially due to a Vitamin D receptor mutation.

    Area of Science:

    • Orthopedics
    • Endocrinology
    • Genetics

    Background:

    • Handigodu Disease (HD) is an autosomal dominant skeletal dysplasia prevalent in Southern India.
    • HD affects the osteoarticular system, with its underlying calcium homeostasis mechanisms poorly understood.
    • The condition is classified internationally as Spondylo-epi-(meta)physeal Dysplasia, Autosomal Dominant variety, Handigodu syndrome.

    Purpose of the Study:

    • To investigate calcium homeostasis in patients with Handigodu Disease.
    • To quantify serum and urinary levels of calcium, phosphorus, parathyroid hormone, calcitonin, and Vitamin D3 in HD patients.

    Main Methods:

    • Serum samples were collected after an overnight fast.
    • 24-hour urinary excretion of calcium and phosphorus was measured.
    • Levels of serum calcium, phosphorus, parathyroid hormone, calcitonin, and Vitamin D3 were quantified.

    Main Results:

    • HD patients exhibited decreased serum total calcium and urinary calcium levels.
    • A significant decrease in calcitonin levels was observed in HD patients.
    • Levels of parathyroid hormone, serum phosphorus, urinary phosphorus, and Vitamin D3 remained unchanged.

    Conclusions:

    • Low calcitonin in HD may contribute to bone resorption, leading to deformities and hypocalcemia/hypocalciuria.
    • The observed hypocalcitonemia without altered parathyroid hormone levels suggests a potential mutation in the Vitamin D receptor (VDR) or an epiphenomenon.

    Keywords:
    Calcitoninhypocalciuriaparathyroid hormone

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