ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Commun 2018;9.400Pheromones play a crucial role to identify potential mates and sexual motivation in mice. These molecules are detected by a specialized circuit which initiates in the nasal septum and then relies on GnRH neurons in the hypothalamus in a sex-dependent manner. Female pheromones induce LH/testosterone release in male mice whereas male pheromones i...

To read the full abstract: Development 2017;144:3879-3893Regenerative medicine techniques are being widely investigated for organs without regenerative capacity, such as lung. Whether pluripotent stem cell derived thyroid organoids will be used in the future as a regenerative medicine approach to treat hypothyroidism is unclear. In the context of an easily available, very cheap and non-in...

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...