Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D

    April 1981 in “ Clinical endocrinology ”
    Sven Beer, M Tieder, David Kohelet, O. A. Liberman, E Vure, G. Bar-Joseph, Daniela Gabizon, Zvi Borochowitz, M. Varon, David Modai
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    TLDR A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
    In 1981, a study reported a 4-year-old girl with severe rickets and alopecia since age 1. The patient exhibited low blood calcium and phosphate levels, secondary hyperparathyroidism, low intestinal calcium absorption, and high levels of circulating 1,25-dihydroxyvitamin D3 (1,25(OH)2D3). Despite normal response to parathyroid extract, treatments with various forms of vitamin D were ineffective, indicating intestinal resistance to 1,25(OH)2D3 and possible bone refractoriness to the hormone. This case contributed to a new category of 'Vitamin D resistant rickets due to end organ unresponsiveness,' with only six similar cases reported at the time, and two closely resembling this case. The molecular basis of the disorder was still unknown.
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