ESPE Yearbook of Paediatric Endocrinology

Front Endocrinol (Lausanne). 2022 Feb 18;13:837450. doi: 10.3389/fendo.2022.837450. PMID: 35250887.Brief Summary: This paper discusses the use of Pluripotent Stem Cell (PSC)-derived pancreatic islets (SC-islets) for studying the basic biology, molecular mechanisms and therapeutic potentials of patients with congenital hyperinsulinism (CHI). The availability of CHI patient islets opens new a...

Ann Endocrinol (Paris). 2020 Jun;81(2–3):83–88. doi: 10.1016/j.ando.2020.04.004. PMID: 32340851This short review summarises the history and current knowledge of molecular genetic aspects of the human gonadal differentiation toward ovary.Major scientific milestones on the topic are described. It is interesting to learn on what grounds it was common doctri...

Cochrane Database Syst Rev. 2021 Aug 23;8(8):CD008901.Division of Molecular Genetics and Department of Pediatrics, Columbia University Medical Center, New York, NY, USA. vvt2114@cumc.columbia.edu. PMID: 34424546Brief Summary: This systematic review evaluated the efficacy and safety of rhGH therapy in improving lung function, quality of life and clinical status of children and young adults (aged up t...

To read the full abstract: J Hepatol. 2019;71(4):802–10. doi: 10.1016/j.jhep.2019.06.023Short summary: Prediabetes is highly prevalent in Caucasian children and adolescents with well-characterized, biopsy-proven non-alcoholic fatty liver disease (NAFLD).Comment: NAFLD is considered the liver presentation of the metabolic syndrome. NAFLD enco...

Brief summary: This literature review summarized the recent advances in our understanding of the GnRH system throughout life and its implication in the brain development beyond its conventional role in reproductive control.During embryonic development GnRH neurons migrate from the olfactory placode to the hypothalamus, where they control the hypothalamus–pituitary–gonadal axis (1,2). But many GnRH neurons migrate to other brain regions, such as...

To read the full abstract: PLoS One. 2018;13:e0201566.NAFLD is a multifactorial disease characterized by an abnormal accumulation of fat in the liver without a history of significant alcohol intake. NAFLD is the most common form of chronic liver disease, affecting 30% of adults and 10% of children in the USA [1]. Alarmingly, its prevalence is increasing worldwide paralleling to the incre...

J Clin Endocrinol Metab. 2020;105(7): e2439-48.https://pubmed.ncbi.nlm.nih.gov/32433752/Here, the authors investigated the effects of dexamethasone (DEX) on metabolism in individuals without CAH but treated with DEX during the first trimester of fetal life. Prenatal DEX exposure was associated with decreased beta-cell function and higher cholesterol concentrations.Pre...

Diabetes Care. 2021 Nov;44(11):2536-2541. doi: 10.2337/dc21-0327. PMID: 34475030.Brief Summary: This retrospective case control study investigated changes in the metabolic profile in newborn screening of infants born to mothers who had been treated with metformin. Treatment with metformin during pregnancy was associated with subtle changes in metabolites in the newborn screening.<p class="abste...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgaa016. PMID: 31927590.Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency requires life-long glucocorticoid (GC) replacement therapy. Previous studies on general cognitive ability in patients with CAH have been conflicting, and the majority focused on intelligence in adult patients. Some studies h...

To read the full abstract: Mol Genet Genomic Med. 2019;7(11):e956. doi: 10.1002/mgg3.956Short summary: Nine boys with Fragile X syndrome (FXS), aged between 2 to 7 years old, received off-label treatment with metformin for at least 3 months. Language development and behaviour improved in the majority of children. A controlled trial of metformin in very young children with FXS, whose brai...