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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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2015/561974 |
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| author | Michela Cappella Vanna Graziani Antonella Pragliola Alberto Sensi Khalid Hussain Claudia Muratori Federico Marchetti |
| author_facet | Michela Cappella Vanna Graziani Antonella Pragliola Alberto Sensi Khalid Hussain Claudia Muratori Federico Marchetti |
| author_sort | Michela Cappella |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-aa9e384f2df645f8bd9394e0aa9293bf |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-aa9e384f2df645f8bd9394e0aa9293bf2025-02-03T05:46:11ZengWileyCase Reports in Pediatrics2090-68032090-68112015-01-01201510.1155/2015/561974561974Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)Michela Cappella0Vanna Graziani1Antonella Pragliola2Alberto Sensi3Khalid Hussain4Claudia Muratori5Federico Marchetti6Department of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, ItalyDepartment of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, ItalyDepartment of Clinical Pathology, Medical Genetics Unit, Pievesestina, 47522 Cesena, ItalyDepartment of Clinical Pathology, Medical Genetics Unit, Pievesestina, 47522 Cesena, ItalyLondon Centre for Pediatric Endocrinology and Metabolism, Great Hormond Street Hospital for Children NHS Trust and the Institute of Child Health, London WC1N 3JH, UKDepartment of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, ItalyDepartment of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, ItalyHyperinsulinemic 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.http://dx.doi.org/10.1155/2015/561974 |
| spellingShingle | Michela Cappella Vanna Graziani Antonella Pragliola Alberto Sensi Khalid Hussain Claudia Muratori Federico Marchetti Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X) Case Reports in Pediatrics |
| 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 |
| url | http://dx.doi.org/10.1155/2015/561974 |
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