ESPE Abstracts

Introduction: The increasing prevalence of obesity has become a major global health issue. Clustering of cardiometabolic risk factors in obese adolescents is associated with reduced life expectancy and impaired quality of life. Due to serious impact of obesity on cardiometabolic health, effective treatment strategies are intensively sought after.Objectives: The aim of this retrospective cross-sectional study was to exami...

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...

Introduction: Clitoral hypertophy can be congenital or acquired, and is usually associated with prenatal and/or postnatal exposure to androgens. Pathophysiological mechanisms responsible for transient hypertophy of the clitoris in female infants born extremely prematurely have not been fully elucidated.Case report: We present the case of an extremely premature female infant, born at 27+5 weeks of gestation, wi...

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...

Background: Ovotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissues in the same individual. SRY is present in approximately 1/3 of patients with 46, XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood.Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5...

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...