Results 51 to 60 of about 245,105 (180)

Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment

Orphanet Journal of Rare Diseases, 2023
Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration.
Qiao Zeng, Yan-Mei Sang
doaj   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Molecular mechanisms of congenital hyperinsulinism [PDF]

Journal of Molecular Endocrinology, 2015
Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to ...
Sofia A, Rahman, Azizun, Nessa, Khalid, Hussain   +2 more
openaire   +2 more sources

Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism

Endocrinology, Diabetes & Metabolism Case Reports
Congenital hyperinsulinism is a rare disorder characterized by hypoglycemia and inappropriately elevated insulin levels. The genetics of congenital hyperinsulinism is complex, with the most common cause being pathogenic variants in the ATP-sensitive ...
Ryan L Smith, Stephen I Stone
doaj   +1 more source

Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism

Frontiers in Endocrinology, 2022
Congenital hyperinsulinism (HI) is a rare disease affecting newborns. HI causes severe hypoglycemia due to the overproduction of insulin. The signs and symptoms of hypoglycemia in HI babies is often not discovered until brain damage has already occurred.
Julie Raskin, Tai L. S. Pasquini, Sheila Bose, Dina Tallis, Jennifer Schmitt   +4 more
doaj   +1 more source

Glycaemic Management and Pregnancy Outcomes in HNF1A‐MODY

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Introduction Birthweight of HNF1A‐affected offspring is largely similar to the background population with rarely reported cases of large for gestational age (LGA) and neonatal hypoglycaemia (NH). Conventional clinical management of pre‐gestational diabetes appears to be sufficient in managing HNF1A‐affected women in pregnancy.
M. T. Crowley, P. McCluskey, N. Ng, B. Sanchez‐Lechuga, A. Fleming, M. Hatunic, B. Kinsley, S. Bacon, K. Colclough, M. Kennelly, M. M. Byrne   +10 more
wiley   +1 more source

Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network

Frontiers in Endocrinology
IntroductionCongenital Hyperinsulinism (HI) is a rare disease that causes severe and recurrent hypoglycemia due to dysregulated insulin secretion. HI is the most frequent cause of severe, persistent hypoglycemia in newborns and children.
Tai L. S. Pasquini, Indraneel Banerjee, Henrik Thybo Christesen, Louise S. Conwell, Antonia Dastamani, Diva D. De Leon, Sarah E. Flanagan, David Gillis, Jennifer M. Kalish, Katherine Lord, Mahlet Mesfin, Jennifer Schmitt, Senthil Senniappan, Charles A. Stanley, Paul S. Thornton, David Zangen, Julie Raskin, the Congenital Hyperinsulinism Collaborative Research Network Members   +17 more
doaj   +1 more source

Recent advances in polyendocrine metabolic ovarian syndrome, formerly polycystic ovary syndrome, with emphasis on endocrine and metabolic dysfunction and cardiovascular risk

Journal of Internal Medicine, Volume 300, Issue 5, Page 590-609, November 2026.
Abstract Polyendocrine metabolic ovarian syndrome (PMOS), previously known as polycystic ovary syndrome, affects 10%–13% of women of reproductive age and remains underdiagnosed despite its substantial health burden. The introduction of the new PMOS nomenclature in 2026 reflects a fundamental shift in understanding the condition as a lifelong endocrine ...
Maria Forslund, Johanna Melin, Anju E. Joham, Terhi T. Piltonen, D. Aled Rees, Helena J. Teede   +5 more
wiley   +1 more source

A Case Series: Congenital Hyperinsulinism [PDF]

International Journal of Endocrinology and Metabolism, 2016
Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism.
Alaei, Mohammad Reza, Akbaroghli, Susan, Keramatipour, Mohammad, Alaei, Ali   +3 more
openaire   +2 more sources

Activation of Protein Kinase A (PKA) signaling mitigates congenital hyperinsulinism associated hypoglycemia in the Sur1-/- mouse model.

PLoS ONE, 2020
There is a significant unmet need for a safe and effective therapy for the treatment of children with congenital hyperinsulinism. We hypothesized that amplification of the glucagon signaling pathway could ameliorate hyperinsulinism associated ...
Mangala M Soundarapandian, Christine A Juliana, Jinghua Chai, Patrick A Haslett, Kevin Fitzgerald, Diva D De León   +5 more
doaj   +1 more source