PMID: 3746537Sep 1, 1986Paper

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

The Journal of Pediatrics
S FanconiA Prader

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.

References

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Citations

Mar 17, 1997·American Journal of Medical Genetics·K TahseenT I Farag
Jul 1, 1995·Baillière's Clinical Endocrinology and Metabolism·J H Bassett, R V Thakker
Oct 1, 1990·Archives of Disease in Childhood·R J Richardson, J M Kirk
Feb 1, 1991·Archives of Disease in Childhood·S A SanjadR D Milner
Jan 6, 2006·Annales d'endocrinologie·Z FitouriS Ben Becher
Sep 3, 2013·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Tsuyoshi IsojimaSachiko Kitanaka
May 29, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Daan H H M VieringDetlef Bockenhauer
Apr 1, 1989·Clinical Pediatrics·Y K Abdel-AlF el-Gharbawy
Jan 1, 1996·Paediatric Anaesthesia·E L JankeI H Lewis
Sep 14, 2007·American Journal of Medical Genetics. Part a·Roger E StevensonCharles E Schwartz
Jan 1, 1992·American Journal of Medical Genetics·P FranceschiniE Piccato
Oct 4, 2020·American Journal of Medical Genetics. Part a·Thiago Rodrigues CavoleAna Beatriz Alvarez Perez
Feb 1, 1992·Acta Ophthalmologica·G Rebolleda FernándezC Lozano
Mar 5, 1999·Clinical Genetics·M A SabryS A Al Awadi
May 4, 2021·Journal of Indian Prosthodontic Society·Abu NazarNicholas Mathew

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