ESPE Abstracts

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children wi...

Background and Aims: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It is caused by mutations in the ACSF3 gene, which provides instructions for making an enzyme involved in the metabolism of fatty acids. As a result of the enzyme deficiency, individuals with CMAMMA experience an accumulation of malonic and methylmalonic acids in their blood and urine...

Background: The Phosphoglucomutase 1 (PGM1) enzyme plays a central role in glucose homeostasis by catalyzing the inter-conversion of glucose 1-phosphate and glucose 6-phosphate. Recently, PGM1 deficiency was recognized to cause the congenital disorders of glycosylation (CDGs). PGM1 deficiency is a rare, autosomal recessive inherited disease which can cause the extreme variability of clinical symptoms multi-organ dysfunction, including ketotic hypoglycemia, dilated cardiomyopat...

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

Objective: To explore the clinical features and the genetic cause of a multiple malformation patient with short stature.Methods: The clinical data was collected in Beijing Children’s Hospital in November 2017. The disease-causing variant was identified using exome sequencing and confirmed with Sanger sequencing. Related literature was searched from Wanfang and Pubmed databases using the key word of ‘PORCN gene’ to identify the clinical fea...

Background: The incidence of congnenital hypothyroidism (CH) differs significantly among different ethnicity and regions, and early differentiation of transient CH is important to avoid unnecessary prolonged treatment with L-T4, it is also helpful for predicting prognosis and alleviating families’ psychological burden.Objective and hypotheses: To investigate the incidence of CH based on the newborn screening program in Guangxi Zhuang Autonomous Regi...

Background: Kabuki syndrome (KS) is a rare dominant disorder of transcriptional regulation with a complex phenotype including cranio-facial dysmorphism, intellectual disability, developmental delay, hypotonia, failure to thrive, short stature and variable cardiac and renal anomalies. Mutations in either KMT2D or KDM6A cause KS. While the phenotype of KS has been reported in many ethnicities, little is known about the phenotypic spectrum of KS...

Management of type 1 diabetes in preschool children is a huge challenge for their caregivers. Age-specific factors (e.g. unpredictable food intake and physical activity, small insulin doses, high insulin sensitivity, frequent intercurrent infections, high variability in insulin requirements) increase the complexity of daily diabetes management. Furthermore, the preschool child depends completely on his/her caregiver. To meet recommended treatment targets while avoiding hypogly...

Objective: evaluate insulin resistance (IR) in children and adolescents with exogen-constitutional obesity (ECO) depending on the stage of sexual development.Materials and research methods: 100 children and adolescents with ECO of the UzBek population from 6 to 16 years were observed (mean age 11.7 ± 0.25 years). The control group consisted of 71 healthy children of the appropriate age (mean age 11.1 ± 0.33 yea...

Background: Evidence associates obesity with glomerular hyperperfusion. Concurrent inflammation, hypertension, dyslipidemia, and insulin resistance represent further established risks to renal health in both children and adults.Objective and hypotheses: To investigate the relationship between childhood obesity and risk of renal impairment.Method: A total of 114 (38.6% boys) obese according to the IOTF reference but otherwise health...