ESPE Abstracts

Childhood cancer survivors (CCS), particularly brain cancer survivors, are at risk of developing growth hormone deficiency (GHD) due to hypothalamic-pituitary damage from direct tumor mass effects or treatment. Optimization of testing, long-term treatment, and monitoring during care transition from pediatric to adult endocrinology providers remain challenging. A group of endocrinology experts convened to discuss these challenges, the risks and benefits of GH therapy in CCS wit...

Background: Type 1 Diabetes (T1D) is associated with increased fracture risk.Aim: Understand the association between glycaemic control and bone health in children with T1D.Method: Children (n, 32) with T1D and a median (range) age of 13.7 years (10.4,16.4), were recruited to study bone mineral content (TB & LS) and body composition by DXA. All data were corrected for size. Vitamin D, Bone alkaline phosphatase (BAP) and...

Introduction: Diencephalic syndrome (DS) is a rare condition characterised by weight loss despite adequate calorie intake in association with other signs and symptoms such as hyperalertness, hyperactivity, visual field defects, nystagmus and vomiting. DS occurs in the presence of hypothalamic lesions, but its exact mechanism remains unclear. The diagnosis is often delayed due to the absence of specific clinical and biochemical features.<...

Keywords: precocious puberty, COVID-19Background: Studies have reported an increase in precocious puberty (PP) cases during the COVID-19 pandemic, but there is inconsistency in the findings. Various influencing factors have been proposed to explain this surge. The present study aimed to investigate the PP trend following the pandemic, examine potential influencing factors, and investigate the dose-response relationship b...

Introduction: Newborn premature infants are susceptible to develop relative adrenal insufficiency (AI) following transition from fetal to extrauterine life. Clinical signs of AI include hypoglycemia, dysbalanced electrolytes, fatigue and low blood pressure. Collecting serum cortisol samples itself is stressful for the infant, which challenges - in addition to analytic problems due to interference between fetal, placental and maternal derived steroids – th...

Objective: To analyze the clinical features and causative genes in children with undiagnosed short stature and study the causative genes in our hospital. Methods Clinical manifestations, laboratory test and whole exome sequencing (WES) results of children with undiagnosed short stature who visited pediatric endocrinology department of our hospital from January 2018 to August 2019 were analyzed retrospectively. Causative genes were classified and analyzed accor...

Background: Hypothalamic hamartoma (HH) is the most common cause of organic central precocious puberty (CPP). Gonadotropin-releasing hormone analogue (GnRHa) is widely used in the treatment of HH combined with CPP, but there is no report on the medium-and long-term efficacy and safety of HH in China.Objective: To investigate the medium-and long-term efficacy and safety of GnRHa in the treatment of children with CPP cause...

Background: Current data from genome wide association studies (GWAS) explains 24.6% of the variation in adult height from 3290 single nucleotide polymorphisms (SNPs)1. Data on the genetic control of growth velocity during childhood is more limited and no previous studies have linked childhood growth to changes in the transcriptome (gene expression) or epigenome (DNA methylation). Here we present a systems biology approach to understand mid-child...

Background and Aims: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are rare skeletal dysplasia belonging to the group of acromelic dysplasia and are both characterized by severe short stature, short hands and feet, stiff joints, facial anomalies and some radiological manifestations, including delayed bone age, shortened long tubular bones and ovoid vertebral bodies. Patients with GD clinically present the characteristic "happy" facial featur...

Case Description: We report a case of a 7-month old Vietnamese boy who presented with failure to thrive and a Cushingoid appearance from 1 month old. There was no history of exogenous steroid use. On examination, height and weight were <3rd centile. He was Cushingoid with motor development delay. There were multiple large café-au-lait lesions over the sacral region but no limb asymmetry to suggest fibrous dysplasia.En...