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Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)

Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic...

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Detalles Bibliográficos
Autores principales: Cappella, Michela, Graziani, Vanna, Pragliola, Antonella, Sensi, Alberto, Hussain, Khalid, Muratori, Claudia, Marchetti, Federico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429216/
https://www.ncbi.nlm.nih.gov/pubmed/26064751
http://dx.doi.org/10.1155/2015/561974
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author Cappella, Michela
Graziani, Vanna
Pragliola, Antonella
Sensi, Alberto
Hussain, Khalid
Muratori, Claudia
Marchetti, Federico
author_facet Cappella, Michela
Graziani, Vanna
Pragliola, Antonella
Sensi, Alberto
Hussain, Khalid
Muratori, Claudia
Marchetti, Federico
author_sort Cappella, Michela
collection PubMed
description Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X) Turner syndrome. We report the four cases of an infant with a mosaic r(X) Turner genotype and HH responsive to diazoxide therapy.
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spelling pubmed-44292162015-06-10 Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X) Cappella, Michela Graziani, Vanna Pragliola, Antonella Sensi, Alberto Hussain, Khalid Muratori, Claudia Marchetti, Federico Case Rep Pediatr Case Report Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X) Turner syndrome. We report the four cases of an infant with a mosaic r(X) Turner genotype and HH responsive to diazoxide therapy. Hindawi Publishing Corporation 2015 2015-04-29 /pmc/articles/PMC4429216/ /pubmed/26064751 http://dx.doi.org/10.1155/2015/561974 Text en Copyright © 2015 Michela Cappella et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Cappella, Michela
Graziani, Vanna
Pragliola, Antonella
Sensi, Alberto
Hussain, Khalid
Muratori, Claudia
Marchetti, Federico
Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
title Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
title_full Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
title_fullStr Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
title_full_unstemmed Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
title_short Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
title_sort hyperinsulinemic hypoglycaemia in a turner syndrome with ring (x)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429216/
https://www.ncbi.nlm.nih.gov/pubmed/26064751
http://dx.doi.org/10.1155/2015/561974
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