ESPE Abstracts

Background: For many years, raising awareness on early referral to endocrinologist, early diagnosis, and treatment continuation for paediatric patients with growth hormone deficiency (GHD) has been continued in Japan. However, the current status of trends in age at diagnosis and of treatment continuation have not been fully clarified.Aim: The aim of this study is to estimate the persistence to growth hormone treatment (G...

Background: Aminoacyl tRNA synthetases (ARSs) are enzymes that bind amino acids to tRNAs, and many of their genetic variants are known to be pathogenic. Asparaginyl Aminoacyl tRNA synthetase (NARS1) deficiency was first reported as a cause of microcephaly in 2020. NARS1 deficiency is characterized by microcephaly, psychomotor retardation, epilepsy, congenital abnormalities of the limbs and skeleton, and a peculiar facial appearance. However, there have been no...

Introduction: PIK3CA-related overgrowth spectrum (PROS) encompasses a group of disorders caused by mutations in the PIK3CA gene, leading to abnormal growth and development of various tissues in the body. We report a case of PROS with hypertrophy of the right index finger and upper limbCase: The case is a 19-month-old boy. He was born at 38 weeks of gestation, weighing 2,554g and measuring 47.2cm in length, with a head ci...

Background, aims and objectives: We hypothesized that classical brown adipose tissue (cBAT) could play a crucial role in the anti-obesity effects of erythropoietin (EPO). Our study highlights the mechanism in which EPO treatments could upregulate energy expenditure and improve glucose homeostasis through cBAT in obese mice fed with a high-fat diet (HFD).Method: C57BL/6J mice had been fed with HFD since the age of 4 weeks (HFD mice). We administered recom...

Growth hormone deficiency (GHD) in children results in reduced adult height. Children with GHD typically require daily subcutaneous (s.c.) injections of growth hormone (GH). Daily injections are burdensome for both patients and their caregivers and reduced adherence negatively impacts clinical outcomes. Somapacitan (Novo Nordisk) is a long-acting reversible albumin-binding human GH derivative in development for once-weekly s.c. administration in children with GHD, aiming to ov...

Background: Brown adipose tissue (BAT) was thought to exist only from birth to infancy and not in adults. However, it has recently been found to be present in adults as well, drawing significant attention as a target for anti-obesity drugs due to its characteristic of energy expenditure independent of exercise. ACE2 converts Angiotensin II (AngII) to Angiotensin 1-7 and antagonizes the ACE/AngII system through Mas receptor. We have previously reported that adm...

Background: Growth hormone (GH) replacement therapy usually requires daily subcutaneous (s.c.) injections that can be burdensome for patients and their caregivers. Long-acting GH formulations aim to establish a less burdensome dosing regimen that is as safe and efficacious as daily GH to potentially improve adherence and clinical outcomes. Somapacitan, a long-acting reversible albumin-binding GH derivative, is in development for once-weekly s.c. administration...

Objective and hypotheses: The aim was to elucidate the mechanism underlying the extreme obesity observed in female heterozygous MeCP2 null mice fed a high-fat diet.Method: We examined the molecular biology and physiology of female heterozygous MeCP2 null mice (Mecp2tm1.1Bird/J, MeCP2+/− mice) fed a high-fat diet (HFD) for 12 weeks since 4 weeks of age using analytical tools. C57/BL6 mice were used as controls.<p class="abs...

Daily subcutaneous (s.c.) injections of growth hormone (GH) to treat GH deficiency (GHD) in children is burdensome for both patients and caregivers. Somapacitan (Novo Nordisk) is a long-acting reversible albumin-binding human GH derivative in development for once-weekly s.c. administration in children with GHD, and aims to overcome the treatment burden of daily injections. REAL4 is a multi-national, randomised, open labelled phase 3 trial with a 52-week main phase followed by ...

Growth hormone (GH) stimulates insulin like growth factor I (IGF I) release. IGF-I is the standard biomarker for monitoring GH effects during treatment and to achieve optimal long-term safety, and to a limited extent, monitor efficacy in children with GH deficiency (GHD). The IGF I profile during treatment with a long acting GH (LAGH), such as once weekly somapacitan (Novo Nordisk), differs from the daily GH profile by exhibiting larger peaks and troughs over the dosing interv...