期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (3)
Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent ......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (1)
Medullary thyroid carcinoma (MTC) is a distinct type of malignant thyroid tumor in cell origin, biological behavior, and natural history. It accounts ......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (3)
Objectives: Congenital hyperinsulinism (CHI) is a group of rare genetic disorders characterized by insulin overproduction. CHI causes life-threatening......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (8)
Objectives Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neural-crest tumour (ROHHAD(NET)) is a rar......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (7)
Background Delayed puberty is a common presentation to endocrine clinics, with adult height, sexual capability and fertility being the main concerns f......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (11)
Objectives In consumptive hypothyroidism associated with infantile hepatic hemangiomas (IHH), elevated reverse triiodothyronine (rT3) is known due to ......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (9)
Objectives Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2) is necessary for the catabolism of ketone bodies andisoleucine. T2 deficienc......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (10)
Objectives We describe growth patterns and predicted adult height (PAH) in pubertal boys treated with letrozole and evaluate the potential predictors ......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (4)
Objectives This study aimed to analyze the impact of sports participation (12 months of practice) on the components of metabolic syndrome (MetS) in bo......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (3)
Objectives It has been hypothesized that SARS-CoV-2 may play a role in the development of different forms of diabetes mellitus (DM). The Canary Island......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (5)
Objectives Niemann-Pick disease type C (NPC) is a lysosomal storage disease due to impaired intracellular lipid trafficking caused by biallelic pathog......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (4)
Objectives Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by FBP1, and the......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (10)
Objectives Nephrocalcinosis is associated with conditions that cause hypercalcemia and the increased urinary excretion of calcium, phosphate, and/or o......
期刊： JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (3)
Objectives Benign Hereditary Chorea (BHC) (MIM 118700) is a rare childhood-onset movements disorder characterized by non-progressive chorea. It is usu......
