ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Med. 2020 Feb 19;9(2). pii: E562. e_rochette@chu-clermontferrand.frThis 5-month prospective case-control study was designed to evaluate the impairment of metabolic response to exercise in 20 childhood acute leukaemia survivors (CALSs), by the analysis of substrate oxidation during submaximal exercise, in comparison with 20 matched healthy controls.<p cla...

To read the full abstract: Int J Cancer. 2020 Mar 13. doi: 10.1002/ijc.32963. Epub ahead of print. susi.kriemlerwiget@uzh.chChildhood cancer survivors (CCS) can experience impaired bone health as a consequence of the disease itself, the specific treatments and/or associated chronic conditions. This cross-sectional study analyses baseline data from th...

To read the full abstract: Endocrinology. 2019;160:1363–1376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

Abstract: FASEB J. 2019;33:4962–4974.In brief: Glucocorticoid-induced growth impairment is reverted by the mitochondrial peptide humanin in dexamethasone-treated mice without attenuation of anti-inflammatory effects.Comment: Humanin (HN) is a 24 aminoacid peptide that was originally discovered as a neuroprotective factor and later shown ...

Abstract: PLoS Biol. 2018 Jul 23;16(7):e2005263.In brief: In this article, Lui et al, make important observations related to the fundamental limits of longitudinal bone growth implicating the growth plate senescence program as a major regulator of bone size.Comment: A person’s right and left arms almost always grow to the same length, bu...

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: Cell Metab. 2018, 27, 226-236Upon sustained cold exposure, white adipose tissue (WAT) can undergo substantial remodeling, characterized by the appearance of thermogenic brown-like or beige adipocytes. This “browning” of white fat depot also happens in humans and is associated with anti-obesity and anti-diabetic effects. This is why WAT “browning&#...

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...

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 study identified nitric oxide synthase 1 (NOS1) heterozygous missense variants in 6 patients with hypogonadotropic hypogonadism. Altered minipuberty and puberty as well as cognitive impairment were observed in NOS1 deficient mice.Nitric oxide (NO) is produced under the control of NO synthase in hypothalamic neurons. NO plays a crucial role in regulating gonadotropin-releasing hormone (GnRH) secretion, acting as a strong inhibitory sig...