PMID: 15379429Sep 24, 2004Paper

Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia

Journal of Pediatric Endocrinology & Metabolism : JPEM
Tsutomu TakahashiGoro Takada

Abstract

Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of the alae nasi, aplasia cutis, dental anomalies, postnatal growth retardation and pancreatic exocrine aplasia. Some endocrinological dysfunctions--growth hormone (GH) deficiency, hypothyroidism, and diabetes mellitus--are known to complicate this syndrome. We report here a Japanese infant with Johanson-Blizzard syndrome presenting with failure to thrive. Endocrinological examination by insulin-induced hypoglycemia showed not only the presence of GH deficiency, but also the loss of the glucagon secretion response to hypoglycemia. This complication suggests abnormal input of autonomic nerves to the islets of pancreas in Johanson-Blizzard syndrome.

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Citations

Jun 30, 2011·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Katharina SchonerHelga Rehder
Dec 6, 2008·World Journal of Gastroenterology : WJG·Naim AlkhouriMartin Zenker
Nov 11, 2011·World Journal of Gastroenterology : WJG·Nabeel AlmashrakiMartin Zenker
Jun 18, 2010·European Journal of Pediatrics·Nima RezaeiMartin Zenker
Jun 17, 2008·American Journal of Medical Genetics. Part a·Mohammed S Al-DosariFowzan S Alkuraya
Mar 24, 2007·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·William H HoffmanFarivar Yaghmai
Dec 15, 2006·Neuroendocrinology·Fuad Lechin, Bertha van der Dijs
Sep 30, 2016·World Journal of Gastroenterology : WJG·Roberto CatanzaroFrancesco Marotta
Aug 10, 2017·Digestive Diseases and Sciences·Tawfik KhouryMeir Mizrahi
Jan 26, 2020·Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]·Shu LiuWeihong Zeng

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