ESPE Abstracts

Objective: The aim of this study was to detect potential gene mutation of idiopathic hypogonadotropic hypogonadism Syndrome (IHH) in a Chinese family.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A Disorder of Sexual Development (DSD) gene panel was applied to identify the pathogenic mutation responsible for the DSD and verified by Sanger.</...

Background: Simple obese is a worldwide public health problem. Recent studies suggested a possible relationship between obese and vitamin D deficiency.Objective and hypotheses: To discuss the relationship between 25-Hdroxyvitamin D with glucose and lipid metabolism of simple obese in Chinese children.Method: 65 children with obeses (35 mild-to-moderate, 50 severe) and sixty-two children with normal weight were enrolled in this tria...

Objective: To explore the correlation of sex hormone-binding globulin (SHBG) and Total Testosterone (TT) with the development of Metabolic syndrome (MetS) in obese boys. To explore the relationship between components of MetS and TT levels in boys.Methods: A total of 439 boys aged 6-18 years old from April 2020 to February 2023, include boys who visited the Department of Endocrinology, Genetics and Metabolism in Jiangxi P...

Objective: To investigate the role of serum anti-mullerian hormone (AMH) and inhibin-B (INHB) in central precocious puberty precocious puberty (CPP) and early and fast puberty(EFP).Methods:90 girls with CPP, EFP and premature thelarche (PT) were enrolled in our hospital from January 2021 to December 2022, and 45 girls without healthy development were enrolled. General data, sex hormones, AMH, INHB levels and gonad ultras...

Purpose: Congenital hypothyroidism (CH) is a state in which thyroid hormones are insufficient at birth. This condition may last for a lifetime or may be transient. Due to the universal newborn screening test, almost all newborns are being screened for thyroid function in Korea. The study was aimed to see the predictors of transient congenital hypothyroidism with long-term follow-up of more than 3 years of CH in a single tertiary center.<...

Objective: Evaluation the clinical efficacy of autologous hematopoietie stem cell transplantation and traditional insulin therapy.Methods: This is a case–control study. The subject investigated were diagnosed primary childhood type 1 diabetes in Beijing Children’s Hospital Endocrinology Centre, and there are 14 cases did the immune intervention combined with autologous hematopoietie stem cell transplantation in other hospital during the first 3...

The DHX37 gene has been identified to cause 46, XY disorders of sex development (DSD), yet there are no reports in China. Here, we report a Chinese pediatric case of 46, XY DSD identified by Whole-exome sequencing which carried a heterozygous missense mutation c.2020 C > T (P.R674 W) in DHX37 gene (NM _ 032656) inherited from the mother. Gonadal pathology showed that the left gonad was structured with a vas deferens and epididymal duct, and the right gonad had vas deferens,...

Background: The triglyceride glucose (TyG) index is significantly associated with the presence of nonalcoholic fatty liver disease (NAFLD) and is a reliable insulin resistance (IR) surrogate marker. Alanine aminotransferase (ALT) has been commonly used to reflect liver inflammation and liver damage in patients with chronic liver diseases, including NAFLD. Transient elastography (TE) uses pulsed echo ultrasound to measure the hardness of the liver, showing exce...

Purpose: Central precocious puberty (CPP) is less common in boys than girls; very little data is reported on long-term effects of gonadotropin-releasing hormone analog (GnRHa) treatment in boys with CPP. The aim of the study was to evaluate the impact of treatment with GnRHa on adult height (AH) and body mass index (BMI) in boys with idiopathic CPP.Subjects and Methods: In 18 boys with confirmed diagnosis of idiopathic C...

Turner syndrome is the most common chromosomal disorder in girls. They present classically short stature and delayed puberty. Turner girls with 45,X karyotype show normal female external genitalia. But Turner patients containing 45,X/46,XY mosaicism, or Sex-determining Region Y(SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation or pure gonadal dysgenesis. Existence of Y chromosome particles in Turner syndrome implies that they have risk of...