Vitamin D deficiency in two young adults with biochemical findings resembling pseudohypoparathyroidism type I and type II

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  • Seki Toshiro
    Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women’s Medical University, Tokyo, Japan
  • Yamamoto Michiko
    Faculty of Human Care, Teikyo Heisei University, Tokyo, Japan
  • Kimura Hironari
    Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women’s Medical University, Tokyo, Japan Field of Pathophysiology, Treatment of Thyroid and Parathyroid Disease, Graduate School of Medicine, Tokyo Women’s Medical University, Tokyo, Japan
  • Tsuiki Mika
    Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women’s Medical University, Tokyo, Japan
  • Ono Masami
    Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women’s Medical University, Tokyo, Japan
  • Miki Nobuhiro
    Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women’s Medical University, Tokyo, Japan
  • Takano Kazue
    Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women’s Medical University, Tokyo, Japan
  • Sato Kanji
    Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women’s Medical University, Tokyo, Japan Field of Pathophysiology, Treatment of Thyroid and Parathyroid Disease, Graduate School of Medicine, Tokyo Women’s Medical University, Tokyo, Japan

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We report two patients with vitamin D deficiency due to unbalanced diet. The patients initially presented with severe hypocalcemia, normophosphatemia and markedly elevated serum PTH levels. Although nutritional vitamin D deficiency was suspected from their history of gastrointestinal problems and dietary restriction, we conducted Ellsworth- Howard test to exclude the possibility of pseudohypoparathyroidism (PHP). Both patients showed no incremental response of urinary phosphate excretion. However, the urinary cAMP response to exogenous PTH was different between the two. Case 1 showed a blunted response (5-fold and 1.54 μ mol/h increase) and case 2 showed a normal response (39-fold and 3.04 μ mol/h increase). According to the criteria of Ellsworth-Howard test, the data of case 1 was compatible with PHP type I, and of case 2 with PHP type II. The final diagnosis of vitamin D deficiency was established in both patients based on very low serum 25-hydroxyvitamin D levels (less than 5 ng/mL) and the effect of treatment. After calcium supplementation with or without vitamin D, their biochemical abnormalities disappeared. They maintained normocalcemia without medication after correction of their unbalanced diet. The present study indicated that patients with vitamin D deficiency occasionally showed biochemical findings suggestive of PHP and that such patients could exhibit not only PHP type II pattern of response to exogenous PTH but also of type I pattern. Thus our clinical observation suggests the complexity of PTH resistance in vitamin D deficiency and underscores the importance of diet to prevent the disorder.

収録刊行物

  • Endocrine Journal

    Endocrine Journal 57 (8), 735-744, 2010

    一般社団法人 日本内分泌学会

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