ESPE Abstracts

Purpose: As the survival rate for pediatric cancers increases significantly with advances in treatment modalities, long-term endocrine complications have also risen. This study investigated the frequencies and risks of endocrine sequelae of childhood cancer survivors after hematopoietic stem cell transplantation (HSCT).Methods: This study included 200 pediatric patients who underwent HSCT. Clinical and endocrinological f...

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endoc...

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: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...

Background: Precocious puberty is common in boys occasionally in girls with beta human chorionic gonadotropin (β-hCG)-secreting intracranial tumors, and is reported to be peripheral precocious puberty exclusively.Object: To described a girl with intracranial β-hCG-secreting germ cell tumor（GCT） who presented with central precocious puberty（CPP）.Method:<...

Purpose: To analyze the effects of clinical and laboratory factors, including insulin-like growth factor (IGF) levels, on the height velocity of normal prepubertal children.Methods: Ninety-five healthy prepubertal children (33 boys, 62 girls) were enrolled. The mean chronological age of the participants was 6.3±1.4 years, with a height standard deviation score (SDS) of −0.88±0.70. IGF-1, IGF binding protein-3 (IGFBP-3), SDS for anthropome...

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...

Neonatal diabetes mellitus (NDM) is a hyperglycemic status usually diagnosed before first 6 months of life, which is caused by monogenic mutations. INS gene mutation is the second most common cause of permanent NDM, causing misfolding of proinsulin and accumulation in the endoplasmic reticulum, leading to apoptosis of the pancreatic beta cells. We report a case of NDM in a 2-month-old girl with a novel heterozygous mutation of the INS gene, and functional studies to confirm th...