ESPE Yearbook of Paediatric Endocrinology

sumudu@pdt.cmb.ac.lk BMC Pediatrics 2021 21:262. doi: 10.1186/s12887-021-02742-9Brief Summary: This questionnaire-based case control study showed that girls with classical congenital adrenal hyperplasia (CAH) had more masculinized gender-role behaviour (GRB) and a tendency for ambiguous gender-identity (GI) compared to healthy children. The most li...

To read the full abstract: Int J Mol Sci. 2019 May 27;20(10). pii: E2590. doi: 10.3390/ijms20102590. PMID:31137773.Ion channels and transporters play essential roles in excitable cells, including cardiac, skeletal and smooth muscle cells, neurons, and endocrine cells. In pancreatic beta-cells, KATPchannels link the metabolic signals generated inside the cell to changes in the beta-cell membra...

To read the full abstract: J Clin Endocrinol Metab. 2018 Aug 1; 103(8): 2794This systematic review and meta-analysis was conducted by a US Endocrine Society Task Force in order to inform new guidelines on the management of childhood cancer survivors (CCS). The aim of this review was to evaluate the effects of GH therapy on final height, risk of diabetes mellitus, lipid abnormalities, met...

To read the full abstract: Pediatr Diabetes. 2018;19:1302–1308.Diabetes education includes nutritional education and the provision of practical guidelines as to the interrelation between insulin requirements and carbohydrate intake. Carbohydrate (CHO) counting has therefore been a recommended daily practice to help patients to manage blood glucose levels in type 1 diabetes (T1D). Ev...

Brief Summary: This article reports a successful medical trial to test the therapeutic potential of targeting the BRAF-MEK pathway (using vemurafenib-cobimetinib combination therapy) in 16 patients with newly diagnosed papillary craniopharyngiomas (PCPs).The authors recruited 16 patients with PCP who tested positive for BRAFV600E mutation, had not undergone radiation therapy and had measurable disease. The primary endpoint was objective respons...

Brief Summary: This observational study highlights the challenges of managing T1D in 8,004 young children with type 1 diabetes (T1D) (age < 6 years) from 3 international registries: Diabetes Prospective Follow-Up Registry (DPV), T1D Exchange Quality Improvement Network (T1DX-QI), and the Australasian Diabetes Data Network (ADDN), using data collected between 2019 and 2021. More than half of included children did not achieve the recommended HbA1c target < 7.0% (53 mmol/...

Brief Summary: This register-based cohort study compared the familial aggregation and heritability of childhood-onset (≤18 years) vs. adult-onset (19-30 years) type 1 diabetes (T1D), using data collected from over 2.9 million individuals born in Sweden between 1982-2010, and from their relatives. Adult-onset T1D showed weaker familial aggregation and lower heritability than childhood-onset T1D.Although T1D is considered a typical childhood...

Brief Summary: Longitudinally collected samples from the Type 1 Diabetes Prediction and Prevention (DIPP) study were used to assess potential differences in immune responses in children at genetic risk of type 1 diabetes (T1D) who later progressed to clinical disease, stratified by autoantibody appearance (IAA-first, GADA-first, ≥2 autoantibodies (AAb)-first groups). Differences in the composition of peripheral blood monoclonal cells (PBMC) were found between the IAA-fir...

In Brief: The authors highlight recent data published by the UK Office for Health Improvement and Disparities (OHID) on estimated excess mortality in England, overall and by age, ethnicity, region and cause. Age-standardised mortality was higher than expected during June 2022 to 30th June 2023. Particular causes of death showed excess mortality: cardiovascular diseases (12% relative excess), heart failure (20%), ischaemic heart diseases (15%), liver diseases (19%), acute respi...

Homozygous familial hypercholesterolemia (HoFH) is a severe disorder caused by genetic mutations in LDLR (encoding the LDL receptor), APOB or PCSK9. LDL-C levels in HoFH are extremely elevated)>400 mg/dL(even in utero, leading to cardiovascular events, and disability or death during childhood and adolescence. Conventional medications have minimal efficacy, since LDL-C levels cannot be reduced through upregulation of hepatic LDL receptors.<p c...