Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.

Details

Serval ID
serval:BIB_3B0487D3FD83
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.
Journal
Journal of Pediatrics
Author(s)
Fanconi S., Fischer J.A., Wieland P., Atares M., Fanconi A., Giedion A., Prader A.
ISSN
0022-3476
Publication state
Published
Issued date
1986
Peer-reviewed
Oui
Volume
109
Number
3
Pages
469-475
Language
english
Notes
Publication types: Case Reports ; Journal Article
Abstract
We report three unrelated patients with Kenny syndrome. Clinical symptoms included severe dwarfism, with internal cortical thickening and medullary stenosis of the tubular bones, normal bone age, macrocephaly, absent diploic space, delayed closure of the anterior fontanel, and normal intelligence; two of the patients had hyperopia and papillary edema. The patients also had episodic hypocalcemic tetany and low serum levels of magnesium. In two patients the diagnosis of idiopathic hypoparathyroidism was established on the basis of undetectable serum parathyroid hormone (PTH) levels (N- and C-terminal RIAs); one of these had normal urinary cyclic adenosine monophosphate (cAMP) response to exogenous PTH. Circulating calcitonin was undetectable in either patient. In a third patient, who had abnormal body proportions, serum levels of PTH were increased in an RIA detecting predominantly intact PTH (N-RIA) and undetectable in another RIA recognizing carboxy-terminal fragments (C-RIA). Administration of PTH promptly increased urinary cAMP excretion. In this patient, serum levels of calcitonin were increased, whereas values for 25-OHD and 1,25(OH)2D were normal.
Keywords
Abnormalities, Multiple, Bone Diseases, Child, Child, Preschool, Dwarfism, Facial Asymmetry, Female, Head, Humans, Hypoparathyroidism, Infant, Male, Parathyroid Hormone, Skull, Syndrome
Pubmed
Web of science
Create date
25/01/2008 10:07
Last modification date
20/08/2019 13:30
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