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The Molecular Basis for Resistance to 1,25-Dihydroxyvitamin D: Studies in Cells Cultured from Patients with Hereditary Hypocalcemic 1,25(OH)2D3-Resistant Rickets

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Steroid Hormone Resistance

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 196))

Abstract

Vitamin D-dependent rickets, type II, is a rare, hereditary syndrome characterized by early onset rickets, hypocalcemia, secondary hyperparathyroidism, normal vitamin D intake, and normal or elevated circulating levels of 1,25-dihydroxyvitamin D (1,25(OH)2D). It is thought to result from target tissue resistance to the action of 1,25(OH)2D in a manner analogous to the resistance to androgens and glucocorticoids seen in patients with decreased hormone action in the face of elevated blood levels of those hormones.1,2 We will refer to this form of rickets as hereditary, hypocalcemic 1,25(OH)2D3-resistant rickets (HHDR).

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Authors and Affiliations

  1. Endocrinology Branch, Naval Hospital and Uniformed Services, University of the Health Sciences, Bethesda, Maryland, 20814, USA

    Charles Eil

  2. Beilinson Medical Center, Tel Aviv, Israel

    Uri A. Liberman

  3. Metabolic Diseases Branch, NIADDK, NIH, Bethesda, Maryland, 20205, USA

    Uri A. Liberman

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  1. Charles Eil
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  2. Uri A. Liberman
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  3. Stephen J. Marx
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Editors and Affiliations

  1. National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

    George P. Chrousos , D. Lynn Loriaux  & Mortimer B. Lipsett ,  & 

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© 1986 Plenum Press, New York

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Eil, C., Liberman, U.A., Marx, S.J. (1986). The Molecular Basis for Resistance to 1,25-Dihydroxyvitamin D: Studies in Cells Cultured from Patients with Hereditary Hypocalcemic 1,25(OH)2D3-Resistant Rickets. In: Chrousos, G.P., Loriaux, D.L., Lipsett, M.B. (eds) Steroid Hormone Resistance. Advances in Experimental Medicine and Biology, vol 196. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5101-6_27

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  • DOI: https://doi.org/10.1007/978-1-4684-5101-6_27

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-5103-0

  • Online ISBN: 978-1-4684-5101-6

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