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Kabuki Syndrome With Hyperinsulinemic Hypoglycemia and Cholestasis in an Infant.
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Department of Pediatrics, Guangdong Women and Children Hospital, Guangzhou, China.
Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective.
Cureus
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Clinical Genetics, Aster Malabar Institute of Medical Sciences, Kozhikode, IND.
Neonatal hypoglycemia (NH) is a common abnormality in newborns, posing significant morbidity risks. Prompt diagnosis and treatment are vital to mitigate brain damage and enhance outcomes. Congenital hyperinsulinemia (CHI) is a leading cause of recurrent hypoglycemia in infants, often stemming from genetic mutations such as in the gene, manifesting as hyperinsulinism-hyperammonemia syndrome (HI/HA).
View Article and Find Full Text PDFCase report: Duplication of the gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.
Front Endocrinol (Lausanne)
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Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan.
Silver-Russell syndrome (SRS) is a syndrome characterized by prenatal and postnatal growth retardation, facial features, and body asymmetry. SRS is often complicated with hypoglycemia, whose etiology is unclear. We describe the clinical course of 25-year-old man with hypoglycemia.
View Article and Find Full Text PDFHypoglycaemia following physical exercise in a patient with novel SLC16A1 variant.
Eur J Endocrinol
January 2025
Diabetes, Appetite and Metabolism Laboratory, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Rare defects in the promoter region of SLC16A1, the gene encoding monocarboxylate transporter 1 (MCT-1), result in exercise-induced hyperinsulinism. In this disorder, inappropriate insulin secretion is triggered by anaerobic exercise with consequent hypoglycaemia. We describe the case of a 41-year-old man presenting with a generalised tonic-clonic seizure and severe hypoglycaemia following strenuous exercise.
View Article and Find Full Text PDFDiazoxide-Associated Hyperglycemia: A Critical Case Precipitating Hyperosmolar Hyperglycemic State in a Child.
J Med Toxicol
December 2024
Division of Pediatric Emergency Medicine, Johns Hopkins Children's Center, 1800 Orleans Street, Baltimore, MD, 21287, USA.
Introduction: Diazoxide is the first-line treatment for children with hyperinsulinemic hypoglycemia (HI). In these cases, diazoxide raises blood glucose levels by suppressing insulin release, preventing hypoglycemia, and potentially devastating end-organ sequelae. Hyperosmolar hyperglycemic state (HHS) is an exceedingly rare side effect of diazoxide.
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