ESPE Yearbook of Paediatric Endocrinology

Brief summary: This study identified a new role for GnRH in higher brain function using a rodent model of Down Syndrome. It reports for the first time an improvement of cognitive functions in patients with Down Syndrome treated with pulsatile GnRH.GnRH neurons are classically described as a population of neurons located in the hypothalamus and responsible for the activation and regulation of the hypothalamic-pituitary-gonadal axis. However, the recent de...

Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. PMID: 32617964.In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly o...

Diabetologia. 2021 May;64(5):1133-1143. doi: 10.1007/s00125-021-05390-x. PMID: 33558985.In order to gain some insight into the potential mechanism/s of diminished beta cell function over time, this mouse model of CHI was developed with an activating GCK (Glucokinase) mutation. In the short term, the mice developed mild fasting hypoglycaemia (this was very mild with fasting blood glucose...

Stem Cell Reports. 2021;16:913–925. doi: 10.1016/j.stemcr.2021.02.011.In analogy to historical data [1], the authors provide important proof of principle that adult thyroid tissues cultivated in vitro show self-renewal and differentiation capacities and might ultimately be of use for regenerative autologous transplantation back into the donor patient affected by hypothyr...

Eur J Endocrinol. 2020; 183: 471–480. https://pubmed.ncbi.nlm.nih.gov/32738133/This cohort and nested case–control study analyzed the impact of growth hormone (GH) treatment on the risk of second neoplasm (SN) in a French cohort of 2852 childhood cancer survivors (CCS) treated before 1986. In total, 126 (64.3%) survivors who received GH had been treated for a brain tumor, 22 (11.2...

J Pediatr. 2021 Mar 5;S0022-3476(21)00211-0. https://pubmed.ncbi.nlm.nih.gov/33676932/The authors analysed BMI data from 10.8 million children and adolescents from the PEDSnet database (USA), collected longitudinally between 1999-2019, to examine the tracking of various BMI metrics (BMIz, BMImz, BMIz extended, %BMIp95, %BMIp50,%BMIp50 adjusted| calculated according to CDC growth char...

N Engl J Med 2021; 384:1113–1124. DOI: 10.1056/NEJMoa2028395 https://www.nejm.org/doi/full/10.1056/NEJMoa2028395The authors report a 72-week, double-blind placebo-controlled trial in 320 adult patients with biopsy-confirmed nonalcoholic steatohepatitis (NASH) and liver fibrosis (stage F1, F2, or F3). Patients were randomly assig...

Arch Dis Child Fetal Neonatal Ed. 2022 Mar 14:fetalneonatal-2021-323296. doi: 10.1136/archdischild-2021-323296. Epub ahead of print. PMID: 35288450.Brief Summary: This study tested the hypothesis that the diurnal cortisol area under the curve (mean daily level) and diurnal cortisol slope (decline across the day) differ between infants born preterm and those born at term. Extremely pr...

J Clin Endocrinol Metab. 2021;106(11):e4716-e4733. PMID: 34136918Brief Summary: In this study, 149 children referred for suspected GH insensitivity (GHI) and short stature underwent genetic characterization through different techniques, including whole exome sequencing, targeted gene sequencing and array comparative genomic hybridization (array-CGH). Genetic alterations were identified in 80/149 subjects (54%), of which 45 were affected by GH&#1...

Clin Transl Med. 2021 Jan;11(1):e265. Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/33463067/In brief: In order to explore safety, efficacy, and feasibility of repeated infusions of mesenchymal stem cells (MSCs) as a treatment for OI, two pediatric OI patients were treated with repeated infusions of HLA-matched MSCs. The patients tolerated the treatment well and ...