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Vitamin D Abnormalities in Hypoparathyroidism and Pseudohypoparathyroidism

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Vitamin D

Abstract

Hypoparathyroidism (HP) is caused by absence or hypoplasia of the parathyroid glands. The disorder may be either idiopathic or acquired. The idiopathic form is usually sporadic and occasionally familial. Sex-linked (1), recessive (2), and dominant forms (3) of transmission are described. Absence or hypoplasia of the parathyroids occur in patients with disorders of development of the pharyngeal pouches, the DiGeorge Syndrome. This usually involves abnormalities of the third and fourth pouches (4), but may involve defects in any of the six pouches so that the term branchial dysembryogenesis (5) was suggested. There are associated aplasia and/or hypoplasia of the thymus and a high incidence of anomalies of the aortic arch and congenital heart disease, the most common of which are a right aortic arch, tetralogy of Fallot and patent ductus arteriosus (4,5). Patients also exhibit facies which are characterized by mild hypertelorism, slight anti-mongoloid slanting of the eyes, asymmetric low-set malformed ears, a fish mouth and an anomaly of the palate (4).

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  1. Norman H. Bell
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  1. Department of Medicine, Mayo Clinic and Foundation, 200 First Street, S.W., Rochester, MN, 55905, USA

    Rajiv Kumar

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© 1984 Martinus Nijhoff Publishing, Boston/The Hague/Dordrecht/Lancaster

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Bell, N.H. (1984). Vitamin D Abnormalities in Hypoparathyroidism and Pseudohypoparathyroidism. In: Kumar, R. (eds) Vitamin D. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-2839-1_25

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  • DOI: https://doi.org/10.1007/978-1-4613-2839-1_25

  • Publisher Name: Springer, Boston, MA

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