ESPE Yearbook of Paediatric Endocrinology

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: 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: Pediatr Diabetes. 2018 19(5):1007-1013Severe hypoglycemia is one of the most threatening events in management of diabetes for parents and relatives. Although parents and patients are taught about the management in the acute situation, many are unable to use injectable glucagon. For moderate hypoglycemia, injectable glucagon seems to be no alternative for most caregivers. N...

To read the full abstract: Proc Natl Acad Sci USA 2018; 115(17) E3914-E3921Pediatric endocrinologists have long known that chronic disease, such as severe asthma or inflammatory bowel disease, leads to slower growth and short stature. But it is not always clear whether this is due to the disease (decreased oxygen to the tissues, decreased absorption of calories, infections), to the treatment (c...

To read the full abstract: Nature Communications 2018;9:1544Obesity prevalence is generally higher in women than in men, and there is also a sex difference in body fat distribution. Sex differences in obesity can be explained in part by the influence of gonadal steroids on body composition and appetite; however, behavioural, and socio-cultural factors may also play a role. Here is th...

Brief summary: This translational study highlights the importance of 2 novel endocytic receptors that are involved in cellular androgen uptake and in the pathogenesis of androgen insensitivity syndrome (AIS) type II.Steroids circulate in complex with plasma transfer proteins, and specific endocytic receptors can mediate cellular uptake of transfer protein/ligand complexes. Reduced intracellular hormone concentrations resulting from impaired hormone uptak...

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...

Brief summary: The authors used data from the Global Burden of Disease 2019 to examine the incidence, disability adjusted life years and mortality of early onset type 2 diabetes T2D) in those 15–39 years of age. This showed that early onset T2D is a growing global health problem in adolescents and young adults, particularly in low-middle- and middle-income countries.Early onset of type 2 diabetes (T2D) is associated with longer lifetime exposure hyp...

Brief Summary: This prospective singleton birth cohort (N=288, 43.4% male) from Flanders, Belgium, was a subset of a larger longitudinal cohort (ENVIRONAGE). The authors used a targeted proteomic panel to measure 386 inflammatory-related proteins in cord blood and examined their associations with birth weight (BW), birth weight ratio (BWR - BW divided by the median BW for gestational age for sex and parity), and rapid infant weight gain (defined as [weight z score at 12 m minu...

In brief: This report describes the efficacy and safety of burosumab during the open-label extension period of the original Phase 3 study (weeks 64-88) in 21 children with X-linked hypophosphatemia (XLH) who continued to receive burosumab or crossed over from conventional therapy to burosumab.Commentary: X-linked hypophosphatemia (XLH) is a rare inherited disorder of phosphorus metabolism caused by loss-of-function mutations in the PHEX gene, re...