ESPE Abstracts

Background: Aspartate transaminase-to-platelet ratio index (APRI) is an easy and useful predictor of hepatic fibrosis in patients with chronic hepatic disease, and it significantly correlates with the degree of hepatic fibrosis in adult patients with non-alcoholic fatty liver disease (NAFLD).Objects: This study aimed to evaluate the use of APRI in assessing the severity of NAFLD in children and adolescents.<p class="...

Background: Recent studies suggest an association between the Klotho protein, sex hormones, and insulin-like growth factor-1 (IGF-1). Particularly, considering the intricate interplay among α-Klotho, sex hormones, and IGF-1 during puberty, investigating α-Klotho levels in patients with central precocious puberty (CPP) could provide a deeper understanding of the significance of this protein.Methods: A total of...

Background: Glycogen storage disease (GSD) is an inherited metabolic defect of metabolic defect of glycogenolysis and gluconeogenesis. Patients with GSDs are associated with endocrine abnormalities such as short stature, delayed puberty, fasting hypoglycemia, and dyslipidemia. In addition, patients with GSD 1b are also at risk of autoimmune hypothyroidism. Therefore, this study was performed to investigate endocrine complications in patients with GSD.<p cl...

Purpose: Patients with mixed gonadal dysgenesis (MGD) and ovotesticular disorders of sex development (DSD) usually present with asymmetric gonads. Differential diagnosis of these conditions is based on karyotype and pathological findings of gonads. However, it is difficult to determine sex of rearing and to predict long-term outcomes. This study investigated the clinical features, karyotype, sex of rearing, and pubertal outcomes of patients with MGD and ovotesticular DSD.<...

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: Turner syndrome, a condition that affects only girls and women, result when the X chromosome is missing or partially missing. Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, is transmitted as a partially dominant X-linked trait. The OTC gene maps to Xp21.1 and spans approximately 73 kb, containing 10 exons and 9 introns. OTC deficiency is diagnosed using a combination of clinical findings and biochemical testing, while co...

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis. The most common form of CAH is the 21-hydroxylase deficiency (21-OHD), however, the incidence and the etiologic spectrum of other forms of CAH were not reported.Objective and hypotheses: This study describes the etiological distribution and clinical characteristics of CAH in a single academic centre.<p class...

Background: Prader-Willi syndrome (PWS) is caused by the deletion of the paternally-derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). Puberty is usually delayed and central precocious puberty (CPP) is very rare in PWS.Objective and hypotheses: This study was undertaken to correlate clinical features focusing on pubertal progression with genotype with or without MKRN3 deletion to understand the mechanism of C...

Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphataemia and Albright hereditary osteodystrophy (AHO), resulting from abnormalities of GNAS.Objective and hypotheses: This study investigated clinical features, outcomes, molecular characteristics of patients with PHP and pseudopseudohypoparathyroidism (PPHP).Method: Thirty one patients (15 males and 16...

Background: Permanent neonatal diabetes mellitus is caused by mutations in the KATP channel subunits. DEND (Developmental delay, Epilepsy, and Neonatal Diabetes) syndrome is the most severe form of permanent neonatal diabetes. We experienced a patient with DEND syndrome, who was initially misdiagnosed as type 1 diabetes, who has been successfully switched from insulin injection to oral sulfonylurea therapy.Case presentation: A 50-day-old male ...