ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2019;104:2023–2030.A child born with birth weight and/or birth length less than 2 SDS below the mean for gestational age is defined as SGA [1]. This definition implies that rather than a specific diagnostic group, SGA children are a heterogenous population with different etiologies, growth patterns and metabolic outcomes. Most SGA ...

To read the full abstract: Cell Metabolism 2018; 28: 23–32Pathogenic mutations in the melanocortin-4 receptor gene (MC4R) are the most common cause of monogenic obesity. However, very limited treatment options exist. Therefore, these authors investigated a glucagon-like peptide-1 receptor agonist (GLP-1 RA) as a treatment option for these patients. The findings are of major signific...

To read the full abstract: BMJ 2018;360:k452The role of thyroid hormones during early gestation is well established by animal studies. In humans, previous studies have shown that maternal hypothyroxinemia was associated with either an early reduction in psychomotor scales (e.g. Bayley scale of infant development) or later in late infancy or adolescence. However, randomized controlled trials on...

To read the full abstract: Stroke 2018;49:579-585Height is regulated by interplay of several factors, including genetic background, intra- and extra-uterine environment, nutrition, and others. Adult height has been inversely related with stroke risk [34] and coronary artery disease [35]...

To read the full abstract: Crit Care Med. 2017; 45(12): 2078-2088This guideline replaces/updates the 2008 recommendations regarding the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in adult and pediatric patients. In CIRCI, inadequate glucocorticoid-mediated anti-inflammatory activity is observed in relation to the severity of the critical illne...

Brief summary: The sodium/iodide symporter (NIS) is the first and limiting step for thyroid hormone synthesis (1). NIS is located at the basolateral membrane of the thyroid follicular cells. NIS translocates iodide against its electrochemical gradient from the blood into the cytosol of the thyroid follicular cell by a co-transport with sodium. Besides iodide, the sodium/iodide symporter has also further substrates such as the environmental endocrine disruptor perchlorate, or s...

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

Clin Endocrinol (Oxf). 2021 Mar;94(3):392–398. doi: 10.1111/cen.14364. PMID: 33140844.In this retrospective study, random growth hormone (GH) levels were compared between newborns (mean age 9.07±6.6 days) with or without GH deficiency. A cut off of 4.5 ng/ml was established as the GH value to diagnose congenital GH deficiency. This value had a 100% sensitivity and 85% specificity for d...

Lancet Diabetes Endocrinol. 2020;8(8):683–692. doi: 10.1016/S2213-8587(20)30163-7. PMID: 32707116SAGhE is a large independent European consortium including eight different countries (Belgium, France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK) which was set up to evaluate the long-term safety of rhGH in a large cohort (>24 000) of young adult patients t...

J Clin Invest. 2020 Aug 3;130(8):4486–4500. 10.1172/JCI136564. PMID: 32407292 https://www.jci.org/articles/view/136564In brief: This study in rats and non-human primate models investigated the mechanisms by which MKRN3 regulates pubertal onset in rats and non-human primates.Comment: Pubertal timing is in...