ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Annals of Global Health. 2020; 86(1): 43, 1–8. doi: https://doi.org/10.5334/aogh.2669• The authors assessed the prevalence of diabetic microvascular complications in 155 children and adolescents with Type 1 diabetes in northwestern Tanzania.• They observed poor diabetes control in 69% of the patients and a high rate of diabetic nephropathy (32.9%), retin...

To read the full abstract: Lancet. 2019 Nov 30;394(10213):2012-2024. doi: 10.1016/S0140-6736(19)32517-6.Resmetirom (MGL-3196) is a liver-directed, orally active, selective thyroid hormone receptor-β agonist. This 36-week long randomised, placebo-controlled trial in 348 US adults with biopsy confirmed non-alcoholic steatohepatitis (fibrosis stages 1–3) shows that Resmetirom...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(8): 2998–3009.Conventional glucocorticoid (GC) therapy in adrenal insufficiency (AI) does not fully mimic the endogenous cortisol circadian rhythm, and this may adversely affect long-term health. In the recent DREAM trial (Dual Release Hydrocortisone vs. Conventional Glucocorticoid Replacement in H...

To read the full abstract: Nature 2017, 542, 450–455Adipose tissue is no longer considered a passive energy store. Instead, it is well established as an important endocrine contributor. Here, the authors comprehensively show that the function of the adipose tissue as an endocrine organ is not limited to classical adipokines, but also includes miRNAs and maybe other non-coding RNAs. This study...

To read the full abstract: Nature 2018;555:647-651An important model system in evolutionary developmental biology (‘evo-devo’) are the surface dwelling (surface fish) and cave adapted (cavefish) morphs which differ in numerous traits. Cavefish is a generic term for fresh water fish adapted to life in caves and other underground habitats. Living in darkness, pigmentation and eyes are use...

To read the full abstract: Science 2017;357:1282-1287This Neanderthal boy died 49,000 years ago from an unknown cause at a dental age of 7.7 years. Most of his bones agreed with this estimation. The authors claim that his general pattern of growth was like that of modern humans, except that the atlas and mid-thoracic vertebrae matured later and remained at the 5-6-year stage of deve...

Brief summary: Current guidelines for congenital hypothyroidism recommend a starting dose of 10–15 μg/d of levothyroxine for optimal treatment (1). Over the last years, some studies suggested that overtreatment of patients during infancy by high levothyroxine doses might have negative effects on neurocognitive and behavioral development (2). The presented multicenter prospective randomized trial aimed at comparing the effect of higher (12.5–15.0 μg/d levoth...

Brief summary: Congenital central hypothyroidism is caused by thyrotropin deficiency, either isolated or in combination with other pituitary deficiencies. So far, mutations in five genes have been identified in patients with isolated thyrotropin deficiency: thyroid stimulating hormone subunit β (TSHβ), thyrotropin-releasing hormone receptor (TRHR), immunoglobulin superfamily member 1 (IGSF1), transducin-like protein 1 (TBLX1), and ...

Brief summary: This ex vivo/ in vitro study describes a novel regulatory mechanism of androgen receptor (AR) gene transcription by intranuclear actin assembly in droplets upon dihydrotestosterone (DHT) stimulation mediated by DAAM2 (Dishevelled-associated activator of morphogenesis 2) gene.Androgen insensitivity syndrome (AIS) is a common etiology in individuals with 46, XY disorder/differences of sex development, AIS has diverse genita...

Brief summary: Two unrelated patients with a disorder of sex development (DSD) phenotype of partial androgen insensitivity (PAIS) showed heterozygous variants in the DAAM2 gene. Their genital skin fibroblasts showed reduced dihydrotestosterone-stimulated androgen receptor (AR) activity. Extensive basic studies revealed the underlying mechanism of the DSD in which DAAM2-regulated actin polymerization at the ligand-inducible androgen receptor is required for androgen-st...