ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Eur J Pediatr 2017; 176:873-879Achondroplasia (ACH) is the most common genetic form of disproportionate short stature, occurring in 1:15,000 –1:40,000 live births [28]. Most patients have a gain of function mutation in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR3), leading to prolonged intracellular MAPK signalin...

To read the full abstract: J Pediatr Endocrinol Metab. 2017;30:869-877Several previous studies had focused on the early risk of metabolic syndrome or its components in survivors of childhood acute lymphoblastic leukaemia (ALL), while fewer data are available on pubertal development in these subjects. The merit of this study was to carefully investigate growth and pubertal development in a large ...

To read the full abstract: Lancet 2017; 390: 374-88See comment on 13.4...

To read the full abstract: Lancet 2017; 390(10092): 389-398[Comment on 13.3 & 13.4] Access to quality medical care is often difficult in resource-limited settings and depends upon the collaboration of key stakeholder groups, including global/regional health policymakers, national governments and health system managers, the pharmaceutical industry and trained clinicians and health work...

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: Neonates of mothers suffering from Graves’ Disease during pregnancy are at risk for hyper- or hypothyroidism postnatally. The risk for hypothyroidism of neonates exposed to maternal anti-thyroid drugs until birth is unknown. This large retrospective study aimed at investigating 1) the incidence of hypothyroid neonates in a large cohort of mothers treated with anti-thyroid drugs until birth, and 2) identify a cutoff for maternal anti-thyroid drug doses assoc...

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: This observational study aimed at clarifying the contribution of pathogenic copy number variants (PCNVs) and candidate pathogenic variants in 86 children born small-for-gestational-age with short stature (SGA-SS).Approximately 10% of children born SGA do not show catch-up and remain permanently short (SGA-SS) (1,2). There is increasing evidence suggesting that genetic abnormalities underlie a high proportion of SGA-SS children. In this stu...

Brief summary: In this study, 10 145 children of 1–8 years of age, selected from a prospective systematic cohort study and stratified according to HLA-risk categories for type-1-diabetes (T1D), underwent a combined evaluation of pancreatic autoimmunity, glucose metabolism and anthropometry at different timeframes. Diagnosis of T1D occurred in 131/10,145 children (1.3%). Faster height growth, both before and after age 3 years, was significantly associated with the appearan...

In Brief: The authors use cell-tracing of Axin2-positive chondroprogenitor cells in the resting zone during and after food restriction to demonstrate that nutrient availability influences the balance between accumulation and differentiation of resting zone chondrocytes and that this is influenced by Igf-1.Commentary: Catch-up growth is the rapid growth that occurs after growth-inhibiting conditions have been cured or removed. The molecular mechanism for ...