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...

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...

J Pediatr Adolesc Gynecol 2020 Oct;33(5):477-483. doi: 10.1016/j.jpag.2020.04.008– Body image and perceptions around feminizing genitoplasty were assessed in 59 children, adolescents and adults with CAH (raised and identifying as females) and their parents– Participants were more concerned with their overall appearance than with appearance of genitalia– A younger age and ...

Eur J Endocrinol. 2021 May 24;185(1):77-85. doi: 10.1530/EJE-20-1332. PMID: 33914700.Brief Summary: This case control study assessed beta-cell function and glucose metabolism in large for gestational age (LGA) infants in relation to their weight and growth parameters at 2 years of age. In LGA infants, changes in growth parameters were associated with changes in insulin resistance and beta-cell dy...

J Bone Miner Res. 2022 Feb;37(2):236-243.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34668234/In Brief: This study characterized a large cohort of patients with fibrous dysplasia/McCune Albright syndrome in order to assess the fracture prevalence and identify risk factors for future factures.Commentary: Fibrous dysplasia/McCune-Albright s...

To read the full abstract: J Endocrinol. 2020:JOE-20-0066.R2. PMID: 32380472.Human physiology and behavior are adapted to daily environmental cycles by means of endogenous circadian clocks. Biological tasks, including cell proliferation, differentiation, energy storage and immune regulation, are preferentially confined to specific periods of the 24-h cycle. This circadian rhythm derives fro...

To read the full abstract: J Clin Endocrinol Metab. 2019;104:2023–2030.A child born with birth weight and/or birth length less than 2 SDS below the mean for gestational age is defined as SGA [1]. This definition implies that rather than a specific diagnostic group, SGA children are a heterogenous population with different etiologies, growth patterns and metabolic outcomes. Most SGA ...

Arch Sex Behav. 2018 Nov;47(8):2307–2317.doi: 10.1007/s10508-018-1218-3. PubMed ID: 29736809An increased incidence of autism spectrum disorder (ASD) among adolescents and adults with gender dysphoria has been reported in many studies. This paper describes one of the rare studies taking an opposite approach, by investigating the self-reported wish to be of the ...

To read the full abstract: J Assist Reprod Genet. 2018 Jul; 35(7):1209.Galactosemia is an autosomal recessive genetic disorder of the galactose metabolism, caused by impaired activity of galactose-1-phosphate uridyltransferase (GALT). Complete deficiency or severely reduced activity of GALT affects approximately 1:30,000 to 1:50,000 persons. Girls and women with classic galactosemia have...

To read the full abstract: Diabetes Care. 2019;42:1297–1304In normal populations, high BMI is associated with higher mortality and morbidity, in particular from cardiovascular disease (CVD). In contrast, in type 1 diabetes (T1D), low body weight has been associated with increased mortality risks. This study investigated the importance of weight and weight gain/loss in patients with ...