ESPE Abstracts

Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a genetic disorder which was first recognized in 2010. MDPL syndrome is comprised of mandibular hypoplasia, deafness, progeroid features, lipodystrophy, hypogonadism and metabolic disorders. It is caused by an autosomal dominant mutation in the polymerase delta 1 (POLD1) gene, with <30 genetically confirmed cases to date.Cas...

Introduction: Nonadherence to insulin therapy is a significant problem worldwide, which is associated with poor health outcomes among patients with type 1 diabetes (T1D). It is important to identify the risk factors related to nonadherence to target those at higher risk of diabetic complications. In Singapore, there is a knowledge gap in understanding the risk factors for insulin nonadherence in paediatric patients with T1D.Objectives: To assess the prev...

Background: Data on prevalence and phenotypic distribution of dyslipidaemia in children with type 1 diabetes (T1D) is scarce. Studies have shown that lipid abnormality tracks from childhood to adulthood and contributes to atherosclerotic process, therefore initial assessment and follow-up is essential.Aims: To study the prevalence and phenotypic distribution of dyslipidaemia in children with T1D and compare with type 2 diabetes (T2D).<p class="abstex...

Background: Emerging evidence suggests FTO polymorphisms are associated with obesity-related comorbidities including type 2 diabetes (T2DM), hypertension and polycystic ovarian syndrome (PCOS). However association of FTO with other comorbidities such as obstructive sleep apnoea (OSA) in paediatric populations is less clear.Objective and hypotheses: To investigate the prevalence of obesity-related comorbidities according to FTO genotype in an obese paedia...

Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder caused by germline mutations in the tumor suppressor gene Phosphatase and tensin homologue (PTEN), a negative regulator of the phosphoinositide-3 kinase (PI3K)/AKT/ mechanistic target of rapamycin (mTOR) pathway. Children with PHTS frequently develop adipose tissue overgrowth, so called lipomas that can lead to loss of organ function due to displacing lipoma growth. Currently, except...

Though most ophthalmologic emphasis has been stressed on the influence of retinopathy on the young diabetic community, lesser known is the complication of cataract, which has resulted in more than half of the blindness worldwide. This study attempts to stratify the epidemiology and risk factors of cataract in the type 1 diabetes mellitus (T1DM) population using data extracted from the National Health Insurance Research Database (NHIRD) in Taiwan.A two-st...

Objective: Through the diagnosis and treatment of Uighur girl with adrenocortical adenoma, who was complain of short stature, to prompt pediatric endocrinologists pay attention to hypercortisolism in the diagnosis and treatment of children with short stature.Methods: With the case report of hypercortisolism in a Uighur child, to introduce the diagnosis and treatment of adrenocortical adenoma, presenting the clinical char...

The patient was a Chinese girl who born 40 weeks of gestation by caesarean section. Her birth weight was 2900g (10th–25th centile), birth length was 48cm (10th– 25thcentile). Both parents are in good health. The family history was unremarkable. She was first admitted to our hospital because of seizure afebrile at 6 months old. She presented discontinues generalized tonic-clonic seizures for 3~5minutes several times, it seemed that these onsets were not associate...

Background: 5α - reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease which has an incidence of 11.2%–15.5% among population with 46, XY DSD (disorders of sex development).Objective: To study the growth pattern in Chinese pediatric patients with 5αRD.Subjects: Data were from 187 patients with 5αRD (age from 0–16 years old,with homozygous or compound heterozygous mutations in ...

Background: Genome-wide association studies have identified rs314276, rs314263, rs7759938 and rs314280 in or near the LIN28B gene as associated with age at menarche. To date, the effect of polymorphisms in this gene on idiopathic central precocious puberty (ICPP) in Chinese girls have not been reported.Objective and hypotheses: The aim of this study was to evaluate the association of the four loci with ICCP in Chinese girls.Method:...