ESPE Abstracts

Objectives: Premature ovarian insufficiency (POI) is mostly considered X chromosome abnormalities in child. Few of POI cases are associated with autosomal abnormalities. This study was to identify new genes involved POI in three girls.Methods: Three girls who came to the hospital because of no menstruation were investigated. They were 14, 15, and 14 years old. They did not find any breast tissue in their physical examination. Clinical data, sex hormones,...

Background: Male genital abnormalities may be associated with environmental endocrine disruptors.Objective and hypotheses: To observe the hypothalamic kiss-1 gene and the testis androgen acceptor (AR) gene expression level changes and the level of serum luteinizing hormone (LH), follicle stimulating hormone (FSH); testosterone (T) and Inhibin B (INH B) in neonatal rats which exposure to different doses of bisphenol-A (BPA). In order to explore the effect...

Objective Summarizing and analysing the clinical characteristics of 193 patients with McCune-Albright syndrome (MAS) in China to improve the understanding of MAS for early detection, diagnosis and management. Methods All MAS-themed case-report or case-series studies published by the Chinese between January 1990 and November 2022 were retrieved from the Wanfang Full Text, CNKI, China Science and Technology Journal, PubMed and Embase databases, and clinical data were collected. ...

Objective: To report a family with MODY2 associated with GCK gene mutation and improve clinicians' understanding of this gene mutation.Methods: The clinical manifestations, laboratory examinations and genetic test results of a MODY2 family diagnosed and treated in our hospital were analyzed retrospectively, and the related literatures were reviewed.Results: The patient is a 6-...

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

Objective: To report the clinical and gene mutation characteristics of a patient with lysine urinary protein intolerance (LPI) characterized by lupus nephritis, lupus encephalitis and extreme short stature, so as to improve understanding of the clinical characteristics of LPI caused by SLC7A7 gene mutation.Methods: The clinical manifestation, laboratory examination and gene test results of a child with LPI diagnosed and ...

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

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,...

Nonalcoholic fatty liver disease (NAFLD),which represents the leading cause of hepatic damage worldwide,is modulated by epigenetic factors, in particular microRNAs (miRNAs), which control at post-transcriptional level many complementary target mRNA. However, the evidence for this is inconsistent. The high stability and expression of circulating exosomal miRNAs may allow their use as candidate biomarkers. For the discovery phase,exosomes were isolated from the serum of patients...

Objective: We aim to investigate the association among progranulin (PGRN), high-mobility group box 1 (HMGB1), and obesity related markers in young rat model of high fat diet-induced obesity.Materials and Methods: 20 Male Sprague-Dawley (SD) rats at the age of 21 days were divided into two groups randomly. The rats were fed with normal diet (NC group) or high-fat diet (OB group). The NC group and OB group were sacrificed ...