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Adiposity rebound and height velocity in patients with Congenital Adrenal Hyperplasia academic.oup.com/ejendo/advan... #hvhebron #endoped [Text complet]

Contemporary Global Management of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia in Early Infancy: A Multi-national Registry Study AbstractObjective. Management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in early infancy is challenging, with extent of va

Contemporary Global Management of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia in Early Infancy: A Multi-national Registry Study academic.oup.com/ejendo/advan... #hvhebron #endoped

Correction: Advances in Pharmacotherapy for Congenital Hyperinsulinism link.springer.com/article/10.1... #hvhebron #endoped

Frontiers | Delphi-based Spanish consensus on the use of long-acting growth hormone in pediatric growth hormone deficiency: recommendations from the ConverGHe Working Group BackgroundLong-acting growth hormone (LAGH) formulations have emerged as an alternative to daily recombinant human growth hormone (rhGH) in pediatric growth ...

Delphi-based Spanish consensus on the use of long-acting growth hormone in pediatric growth hormone deficiency: recommendations from the ConverGHe Working Group www.frontiersin.org/journals/end... #hvhebron #endoped [Text complet]

Epidemiological Characteristics of Pediatric Patients with Intestinal Failure in Spain: Data from the REPAFI Registry www.mdpi.com/2072-6643/17... #hvhebron #endoped [Text complet]

Advances in Pharmacotherapy for Congenital Hyperinsulinism - Pediatric Drugs Congenital hyperinsulinism (CHI) is a rare disorder causing persistent hypoglycaemia in infants due to excessive insulin secretion from pancreatic β-cells. It has genetic causes, primarily mutations i...

Advances in Pharmacotherapy for Congenital #Hyperinsulinism link.springer.com/article/10.1... #hvhebron #endoped

Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2 - Journal of Clinical Research in Pediatric Endocrinology Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2 - Journal of Clinical Research in Pediatric Endocrinology

Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2 jcrpe.org/articles/cas... #hvhebron #neuroped #endoped #gen

Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI - BMC Endocrine Disord... Objective To evaluate the baseline and follow-up clinical and radiological characteristics of a paediatric cohort initially diagnosed with isolated congenital growth hormone deficiency (IGHD) and pitu...

Progression from isolated growth hormone deficiency to a combined pituitary hormone deficiency in a cohort of paediatrics patients with pituitary morphology abnormalities on MRI bmcendocrdisord.biomedcentral.com/articles/10.... #hvhebron #endoped [Text complet]

Blood pressure and its associations in 554 children and young people with CAH AbstractBackground. Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) affects approximately 1 in 15,000 individuals. We leverag

Blood pressure and its associations in 554 children and young people with CAH academic.oup.com/ejendo/advan... #hvhebron #endoped [Text complet]

Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes AbstractObjective. Heterozygous germline inactivating mutations in GNAS can cause hormonal resistance, while activating mutations, usually somatic, result

Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes academic.oup.com/ejendo/artic... #hvhebron #endoped #gen

Key Gaps in the Prevention and Treatment of Obesity in Children and Adolescents: A Critical Appraisal of Clinical Guidelines www.mdpi.com/2227-9067/12... #hvhebron #endo #endoped [Text complet]

Global, multi-center, repeat-dose, phase 2 study of RZ358 (ersodetug), an insulin receptor antibody, for congenital hyperinsulinism Congenital hyperinsulinism (cHI) is a rare, primarily pediatric disease characterized by dysregulated insulin secretion resulting in severe, persisten…

Global, multi-center, repeat-dose, phase 2 study of RZ358 (ersodetug), an insulin receptor antibody, for congenital hyperinsulinism www.sciencedirect.com/science/arti... #hvhebron #endoped [Text complet]

Hiperplasia suprarrenal congénita clásica por deficiencia de 11 beta-hidroxilasa: características clínicas, bioquímicas, moleculares y evolución a largo plazo 11β-hydroxylase (11β-OH) deficiency is the second most frequent cause of classic congenital adrenal hyperplasia (CAH) (5%-8% of cases). Clinically, it…

Hiperplasia suprarrenal congénita clásica por deficiencia de 11 beta-hidroxilasa: características clínicas, bioquímicas, moleculares y evolución a largo plazo www.sciencedirect.com/science/arti... #hvhebron #endoped #gen #nefroped [Text complet]

Frontiers | Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3) ObjectiveTo identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.DesignImprinting is an epigenet...

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3) www.frontiersin.org/journals/end... #hvhebron #endoped [Text complet]