ESPE Abstracts

Objective: This study aims to compare the clinical and electrophysiological characteristics of two cases of type I sialidosis in Chinese children with previously reported cases, in order to elaborate the clinical and genetic features of type I sialidosis.Methods: Clinical investigations and genetic analyses were conducted on an 11-year-old girl primarily presenting with short stature, admitted in June 2020, and a 10 year...

Objective Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycemia in children. Methods We retrospectively analyzed the youngest diagnosed case of IAS in China, which presented as frequent spontaneous hypoglycemia. Results A 4-year-old boy with a height of 102.5 cm (-0.16 SD), weight of 18 kg (0.84 SD), and BMI of 17.13 kg/m2 (1.35 SD) was examined. He had no distinctive facial features or acanthosis nigricans. After a fasting test for 14 hours, his v...

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

Title: The making of the EndoWatch: A new device for Early Monitoring of Hypothalamic imbalances. Hulsmann S, Petras S, Fraboulet P, Yuan Lu, van Santen HM (on behalf of the EndoWatch team) Keywords: Paediatric and adolescent cancer survivors, Brain tumour, Quality of Life, Wearable, Hypothalamic Obesity Main goals: Aim for better quality of lifeIntroduction: Children and adults with a suprasellar (hypothalamic)...

Background: In this study we anaysed the epidemiology, clinical characteristics, immunological and metabolic factors in children with type 1 diabetes (T1DM).Methods: From January 2009 to January 2023, children with T1DM. were enrolled in this study. 79 healthy children were recruited as the control group.Results: A total of 357 children with T1DM were included, including 177 males ...

Objective: X-linked agammaglobulinemia (XLA) is a kind of primary immunodeficiency disease caused by mutations in the gene encoding Bruton agammaglobulinemia tyrosine kinase (BTK). This study, we identified a novel in frame deletion mutation in exon11, c.902 _ c.904 delAAG(p.e301 _ g302 delinsG) in BTK gene and evaluated the function of BTK.Methods: A five-year-old boy presented with recurrent respiratory tract infections. His height wa...

Objective: To explore the clinical characteristics of diagnosis and treatment in patients with congenital tufting enteropathy.Method: A rare case of congenital tufting enteropathy was diagnosed at West China Second University Hospital, Sichuan University in July 2016, the clinical data of congenital tufting enteropathy was analyzed retrospectively, and the related literature were reviewed. Original papers on congenital tufting enteropathy published until...

Background: The relationship between probiotic supplementation and puberty onset has not been explored.Objective: To investigate the effects of probiotics oral intake during childhood on the gut microbiota when puberty onset in lactating female mice.Method: Feeding female mice with probiotic suspension of Bifidobacterium longum, Lactobacillus bulgaricus and Streptococcus thermophil...

Objective: To explore the relationship between overweight, obesity and development of children aged 3 ~ 18 years in Jiangxi Province From 2017 to 2020, a cross-sectional survey was conducted among 36,009 children aged 3-18 years in Jiangxi Province, and the possible influencing factors of obesity and precocious puberty were studied by single factor Logistic regression with SPSS 26.0 software According to the development of BMIS, the correlation between BMI and...

Background: 1q21.1 microdeletion syndrome is a genetic disorder characterized by a spectrum of complex clinical manifestations, including neurodevelopmental abnormalities, short stature, and cardiac anomalies. However, the phenotypic heterogeneity of this condition poses a diagnostic challenge. We report a unique case of a patient who presented solely with short stature, which was later determined not to be caused by a 1q21.1 microdeletion after comprehensive ...