Congenital hyperinsulinaemic hypoglycaemia—a review and case presentation

S Krawczyk, K Urbanska, N Biel, MJ Bielak… - Journal of Clinical …, 2022 - mdpi.com
Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of persistent
hypoglycaemia in infants and children with incidence estimated at 1 per 50,000 live births …

The spectrum of endocrine pathology

SL Asa, LA Erickson, G Rindi - Endocrine Pathology, 2023 - Springer
Endocrine pathology comprises a spectrum of disorders originating in various sites
throughout the body. Some disorders affect endocrine glands, and others arise from …

The term newborn: hypoglycemia

EM Hubbard, WW Hay - Clinics in Perinatology, 2021 - perinatology.theclinics.com
Neonatal hypoglycemia is a common metabolic condition that continues to plague clinicians.
Despite decades of clinical observations, basic and clinical research, and many scholarly …

Molecular characterization and management of congenital hyperinsulinism: a tertiary centre experience

R Sharma, K Roy, AK Satapathy, A Kumar, PM Nanda… - Indian Pediatrics, 2022 - Springer
Background There is limited data from India regarding medical management of congenital
hyperinsulinism (CHI). Objective To study the molecular diagnosis, medical management …

Congenital hyperinsulinism: management and outcome, a single tertiary centre experience

K El Tonbary, P Robinson, I Banerjee… - European Journal of …, 2020 - Springer
Hyperinsulinemic hypoglycaemia (HH) is the most frequent cause of persistent
hypoglycaemia in neonates and infants. The most severe forms of HH are inherited and …

Functional analysis of HADH c. 99C> G shows that the variant causes the proliferation of pancreatic islets and leu-sensitive hyperinsulinaemia

W Long, YB Wang, PF Qu, L Ma, SJ Wei, YM Xi… - Journal of Genetics, 2022 - Springer
A novel missense variant (NM_005327. 7: c. 99C> G, p. Ile33Met) was discovered in 3-
hydroxyacyl-CoA dehydrogenase (HADH), which is involved in congenital hyperinsulinism …

Clinical Case Report of Non-Diabetic Hypoglycemia Due to a Combination of Germline Mutations in the MEN1 and ABCC8 Genes

M Yukina, E Solodovnikova, S Popov, V Zakharova… - Genes, 2023 - mdpi.com
Introduction: Non-diabetic hypoglycemia (NDH) is a collective term including the multiple
causes of hypoglycemic syndrome not due to diabetes mellitus. NDH may result from …

[HTML][HTML] A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review

M Yuan, Y Shan, F Xu, L Yang, C Sun… - Translational …, 2023 - ncbi.nlm.nih.gov
Background Shashi-Pena syndrome (SHAPNS) is a developmental disorder caused by
mutations in additional sex combs-like Protein 2 (ASXL2). Since 2016, only 12 cases from …

[HTML][HTML] Postprandial hypoglycaemia in adults: Pathogenesis, diagnosis and management

RA Sulaiman - Journal of Laboratory and Precision Medicine, 2021 - jlpm.amegroups.org
Postprandial hypoglycaemia (PPH) develops due to the dysregulated insulin release from
pancreatic β-cells in the presence of low blood glucose levels. It is the presenting feature of …

Octreotide-related exocrine pancreatic insufficiency (EPI) in congenital hyperinsulinism

P Ros-Pérez, L Golmayo, ML Cilleruelo… - Journal of Pediatric …, 2020 - degruyter.com
Background Congenital hyperinsulinism (CH) is the most frequent cause of persistent
hypoglycemia in the newborn. Octreotide, a long-acting somatostatin receptor analog …