ESPE Abstracts

Background & objective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by an early onset, autosomal dominant mode of inheritance and a primary defect in pancreatic β-cell function. MODY has been identified in Asian populations, however, there is a big discrepancy in the genetic locus between Asian and Caucasian patients with MODY. We previously reported that mutations in PTPRD, SYT9 and WFS1 have been identified in Ko...

Background and objective: It has been reported that glycemic control gets better in children with T1DM on insulin glargine and lispro when compard to patients on NPH and RI. This study was conducted to see the changes of glycemic control after switching from insulin glargine and lispro (GLAR/LIS) to NPH and RI (NPH/RI) in Korean children with T1DM.Materials and methods: We studied 14 patients who were diagnosed with T1DM in Kyungpook National Children&#1...

Background and objective: The peak GH value plays a crucial role in the diagnosis of idiopathic growth hormone deficiency (iGHD). However, the prediction of peak GH in iGHD diagnosis is known to be limited. The purpose of this study was to evaluate the clinical and diagnostic usefulness of the total sum of GH values obtained from the GH stimulation test.Materials and methods: We retrospectively reviewed 178 prepubertal children who were diagnosed with iG...

Objective: To research the the relationship between secular trends of puberty development and obesity in child and adolescent in area of southwest China.Methods: Selected respectively 4010 childs and adolescents aged between 6 and 17 years in April 2003 to May 2005, and 1387 childs and adolescents aged between 6 and 18 years in December 2013 to November 2015 in China Chongqing area.Height, weight and the breast, pubic hair development of girls, and the t...

Background & objective: The occurrence of CPP seems to be increasing in our clinical practice thesedays. It is known that CPP causes socio-psychological disturbances relating to early pubertal changes and finally leads to a significant decrease in the final adult height because of premature closure of the growth plate. This study was conducted to see major factors affecting to the bone maturation, which is closely related to the final adult height in girls with CPP.<p ...

Background: ALT-P1 (CJ-40002) is a long-acting recombinant growth hormone (GH) fused with NexP, which is a long-acting carrier developed by Alteogen Inc. NexP is a protein engineered recombinant alpha1 antitrypsin with further increased in vivo half-life without a native proteinase inhibitor activity. In non-clinical studies of cynomologus monkeys, the extended half-life of hGH-NexP has been successfully proved without side effects in high dose as 20 mg per kg dose.<p clas...

Background: Cholesterol levels are variable throughout childhood and adolescence. The attention not only to conventional lipid profiles but also to non-high-density lipoprotein cholesterol (non-HDL-C) and triglyceride to HDL-C ratio (TG/HDL-C ratio) are becoming more apparent in pediatric lipid studies because of their clinical importance.Objective and hypotheses: The aim of the present study was to establish age- and gender-specific reference values for...

Background: In girls with central precious puberty (CPP), the hypothalamic-pituitary-gonadal axis is prematurely activated. If the girl is treated with GnRH agonist (GnRH-a), gonadotropins levels become suppressed.Objective and hypotheses: We aimed to evaluate whether serum antimu llerian hormone (AMH) and inhibin B levels are affected in girls with CPP and whether pituitary suppression by GnRH-a affects serum AMH and inhibin B levels.<p class="abste...

Background: Noonan syndrome is autosomal dominantly inherited disease with an incidence of 1:1000 to 1:2500 newborns. It is caused by different gene mutations involved in the RAS/MAP kinase signaling pathway in the cells. Phenotype including expression of dysmorphic features and visceral organ affection is variable. Different gene mutations are found in approximately 60–70% of tested patients.Objective and hypotheses: To report mutational analysis i...

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...