Advances in differential diagnosis and management of growth hormone deficiency in children

C Hage, HW Gan, A Ibba, G Patti, M Dattani… - Nature Reviews …, 2021 - nature.com
Growth hormone (GH) deficiency (GHD) in children is defined as impaired production of GH
by the pituitary gland that results in growth failure. This disease might be congenital or …

[PDF][PDF] Congenital hyperinsulinism: diagnosis and treatment update

H Demirbilek, K Hussain - Journal of clinical research in …, 2017 - jag.journalagent.com
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are
maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic …

[HTML][HTML] 2018 European Thyroid Association (ETA) guidelines on the diagnosis and management of central hypothyroidism

L Persani, G Brabant, M Dattani… - European thyroid …, 2018 - etj.bioscientifica.com
Objectives: Central hypothyroidism (CeH) is a rare form of hypothyroidism characterized by
insufficient thyroid stimulation due to disturbed pituitary and/or hypothalamic functioning …

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

MN Wakeling, NDL Owens, JR Hopkinson… - Nature …, 2022 - nature.com
Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing
when their protein product would disrupt normal cellular function. This silencing is largely …

Therapies and outcomes of congenital hyperinsulinism‐induced hypoglycaemia

I Banerjee, M Salomon‐Estebanez, P Shah… - Diabetic …, 2019 - Wiley Online Library
Congenital hyperinsulinism is a rare disease, but is the most frequent cause of persistent
and severe hypoglycaemia in early childhood. Hypoglycaemia caused by excessive and …

[HTML][HTML] The genetic and molecular mechanisms of congenital hyperinsulinism

S Galcheva, H Demirbilek, S Al-Khawaga… - Frontiers in …, 2019 - frontiersin.org
Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the
unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic …

[HTML][HTML] Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus

MG Shaikh, AK Lucas-Herald, A Dastamani… - Frontiers in …, 2023 - frontiersin.org
Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent
hypoglycaemia in infants and young children caused by inappropriate insulin over …

[HTML][HTML] Hyperinsulinemic hypoglycemia in children and adolescents: recent advances in understanding of pathophysiology and management

M Gϋemes, SA Rahman, RR Kapoor… - Reviews in Endocrine …, 2020 - Springer
Hyperinsulinemic hypoglycemia (HH) is characterized by unregulated insulin release,
leading to persistently low blood glucose concentrations with lack of alternative fuels, which …

[HTML][HTML] International guidelines for the diagnosis and management of hyperinsulinism

DD De Leon, JB Arnoux, I Banerjee, I Bergada… - Hormone Research in …, 2024 - karger.com
Background: Hyperinsulinism (HI) due to dysregulation of pancreatic beta-cell insulin
secretion is the most common and most severe cause of persistent hypoglycemia in infants …

Congenital hyperinsulinism disorders: genetic and clinical characteristics

E Rosenfeld, A Ganguly… - American Journal of …, 2019 - Wiley Online Library
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in
infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to …