title: Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X).
abstract: 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.
authors.affiliation: Department of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Cappella
authors.affiliation: Department of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, Italy.
authors.forename: Vanna
authors.initials: V
authors.lastname: Graziani
authors.affiliation: Department of Clinical Pathology, Medical Genetics Unit, Pievesestina, 47522 Cesena, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Pragliola
authors.affiliation: Department of Clinical Pathology, Medical Genetics Unit, Pievesestina, 47522 Cesena, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Sensi
authors.affiliation: London Centre for Pediatric Endocrinology and Metabolism, Great Hormond Street Hospital for Children NHS Trust and the Institute of Child Health, London WC1N 3JH, UK.
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
authors.affiliation: Department of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Muratori
authors.affiliation: Department of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Marchetti