ESPE Abstracts

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:...

Objective: To explore the therapeutic effects and adverse reactions of a combination of letrozole or Gonadotropin releasing hormone analog (GnRHa) and recombinant human growth hormone (rhGH), compared with rhGH alone, in pubertal short boys.Methods: Sixty-four pubertal short boys were divided into three groups, one group were treated with rhGH (rhGH group, n=21), one group were treated with the combination o...

Background: The incidence of obesity, especially in children, have dramatically increased over the last few decades. Recently, studies highlighted the involvement of gut microbiota in the pathophysiology of obesity. Gender-related differences have been reported in animal and adult. Nonetheless, reports related on the features of gut microbiota in children with obesity is limited and no one reported the different composition of gut microbiota at different sex o...

Background: Childhood obesity has been a worrisome public health issues today. Recent studies conducted in adult populations and animals have suggested beneficial effects of probiotics on obesity, while, the experience is limited in the pediatric age group and the results are conflict.Object: The primary objective was to determine the effect of Probiotics consumption on weight change. The secondary objective was to deter...

Background: Turner syndrome (TS) is due to complete or partial deletion of an X chromosome. The most common clinical features encountered in TS patients were short stature and primary amenorrhea.Objective and hypotheses: The purpose of this study was to investigate the causes of short stature in TS.Method: 86 patients with TS were diagnosed by karyotypes from 2004 to 2013, the karyotypes distribution were as follows: 64 patients wi...

Objective: Report 5 new variants of 7 KMT2D/KDM6A and summarize the clinical manifestations and the mutational spectrum of Kabuki syndrome (KS) by analyzing the reported Chinese cases.Methods: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 39 previously published unrelated Chinese KS patients were summarized.<p ...

Objective: This study is to evaluate the association among plasma adropin, leptin, lipopolysaccharide-binding protein (LBP) levels and lipid characteristics in children with obesity.Methods: This was a cross-sectional study of children with obesity ranging from 5.5 to 12.5 years old, and age- and gender-matched children with normal weight were collected as control. Height, weight, waist circumference and hip circumference of all the participants were mea...

Objective: To investigate the co-relationship among glucolipid metabolism and inflammation, adipokines in obese and normal weight children.Methods: Children aged 5 to 15 year-old were collected. Fasting venous blood samples were collected to test liver function, triglyceride (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), fasting plasma glucose (FPG) and insulin. The inflammatory marker...

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 ...

Central precocious puberty (CPP) is one of the most common pediatric endocrine diseases with an ever increasing incidence. CPP is associated with the loss of final adult height, early menarche, psychological problems and an increased risk of developing diseases in later adulthood such as female reproductive system tumors. The gonadotropin-releasing hormone stimulation test (GnRHST) is the gold standard for the diagnosis of CPP. However, the test is costly and time consuming to...