Results 41 to 50 of about 14,092 (208)
Case Report: The importance of genetic counseling for families with hyperinsulinism
Frontiers in PediatricsCongenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients.
Victoria R. Sanders +18 more
doaj +1 more source
Nifedipine in Congenital Hyperinsulinism - A Case Report. [PDF]
, 2016 PublishedJournal ArticleThis is the final version of the article. Available from Galenos Yayınevi via the DOI in this record.Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates.
Basak, D +4 more
core +1 more source
International Journal of Endocrinology, 2016 Objective. The aim of this study was to assess the utility of arterial calcium stimulation with hepatic venous sampling (ASVS) in the localization diagnosis of endogenous hyperinsulinism. Patients and Methods.
Paloma Moreno-Moreno +6 more
doaj +1 more source
Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome:Hearing Loss, Retinitis Pigmentosa, and Hyperinsulinemic Hypoglycemia Ranging from Severe to Mild with Conversion to Diabetes [PDF]
, 2013 OBJECTIVE: To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528).
Al Mutair, Angham N +6 more
core +1 more source
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Rapid intraoperative insulin assay: a novel method to differentiate insulinoma from nesidioblastosis in the pediatric patient [PDF]
, 2007 Introduction: Hyperinsulinism is the most common cause of recurrent and persistent hypoglycemia in infancy and childhood. Causes can include nesidioblastosis, pancreatic islet cell tumors such as insulinoma, and associations with multiple endocrine ...
Vivian E Strong +20 more
core +2 more sources
Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion
Case Reports in Endocrinology, 2023 Hypoglycemia is concerning for neurological complications in infants and children. Determining the cause of hypoglycemia is essential in providing appropriate treatment.
Erica Wee +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly +3 more
wiley +1 more source
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion [PDF]
, 2001 A female infant of nonconsanguineous Indian parents presented at 4 months with a hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were associated with inappropriately elevated plasma insulin concentrations.
Aynsley-Green, A +9 more
core
Cardiovascular Health in Women—Across the Lifespan
Clinical Endocrinology, Volume 104, Issue 6, Page 539-555, June 2026.ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar +5 more
wiley +1 more source