ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Mol Genet. 2017 Nov 15;26(22):4315-4326These two papers describe the association of heterozygous FOXA2 mutations with hypopituitarism and hyperinsulinism. The forkhead/winged helix transcription factor Foxa2 is a major upstream regulator of Pdx1, a transcription factor necessary for pancreatic development and also plays a role in the developmental biology of the pituit...

To read the full abstract: J Clin Endocrinol Metab 2017; 102:1702-1711Short stature is a common feature of children with Prader-Willi syndrome (PWS) as well as hypotonia, hyperphagia, obesity, hypogonadism, behavioral disturbances and hypothalamic dysfunction. Alterations in the GH/IGF1 axis are common in patients with PWS, GH deficiency occurring in approximately 74% and IGF-1...

To read the full abstract: J Clin Endocrinol Metab 2017; 102(11):4080-4088GH influences the structure and function of the heart. Untreated GHD adults have a worse cardiometabolic disease risk profile characterized by altered body composition, unfavorable changes in metabolism, reduced left ventricular mass and cardiac output and decreased exercise capacity [25-26]. GH...

To read the full abstract: J Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...

To read the full abstract: PLoS One. 2018;13:e0193992Enterovirus infections in children are associated with an almost 10-fold higher risk of T1DM. In these families in parents and siblings enterovirus can frequently be detected by PCR. However, the role of enteroviral infections in the pathogenesis of T1DM is complex. Although enterovirus infections are less prevalent T1DM incidence increa...

To read the full abstract: JAMA. 2017;318:1358-1366Here, the authors compared the metabolic control in young patients with T1DM with insulin pump therapies versus multiple injection treatment modalities using the data from 30 579 patients younger than 20 years of age of 446 centers in a prospective population-based cohort study. While it is very clear that pump therapy, compared with injection ...

To read the full abstract: Diabetes Care. 2017;40:849-855Coping strategies for people with chronic diseases include working on risk factors as well as using and employing resilience factors in daily coping strategies. Both strengthes and difficulties may be experienced by people with T1DM. In this study, strengths were strongly related to key resilient outcomes, even in the presence of well-documente...

To read the full abstract: J Pediatr Endocrinol Metab 2018; 31(6):601-608This article summarizes the findings of likely the largest program of neonatal congenital hypothyroidism (CH) screening in the world. This is a truly impressive effort. The overall incidence of CH was 1/2421, in line with other reports that also observed a relatively high incidence of CH in neonates born in Asia. However, a...

Brief summary: This retrospective longitudinal study included 5698 patients with multiple height measurements since birth to the near-adult age. The aim was to define different growth patterns of children from birth to 18 years corrected for gestational age, sex and auxological status at birth in order to early identify children at risk for adult short stature. Adult height was significantly reduced in preterm and/or in small-for-gestational-age (SGA) children, with no sex dif...