ESPE Abstracts

Objective: To observe vaginal opening day (VOD), hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression level changes in neonatal rats exposure to different doses of bisphenol-A(BPA).Methods: Neonatal female SD rats were randomly divided into six groups: control group, vehicle group, 17β-estradiol group (17β-estradiol, E2,10 μg/kg per day), low-dose BPA group (25 μg/kg per day), medium-dose BPA group (50 μg/...

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD) hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression ...

Introduction: MKRN3, kisspeptin and IGF-1 maybe involved into the initiation of puberty. The aim of our research is to evaluate the differences of serum IGF-1, MKRN3 and kisspeptin in girls with central precocious puberty, rapidly progressive puberty, premature thelarche and controls, and further assess the value of IGF-1 in puberty initiation.Methods: The patients enrolled in the study were divided into four groups: central precocious puberty (CPP), rap...

Background: IGF1R gene mutation usually cause IUGR. The children born with IUGR were prone to some kinds of brain function disorders.Objective and hypotheses: The dysfunction of the brain was caused by the abnormal oligodendrocyte development.To establish lentivirus vector of IGF1R gene mutation (R709Q) and transfect oligodendrocyte precursors (Ge6). Observe the IRS/MAPK and PI3K/Akt/PKB signaling pathway and the change of proliferation, differentiation,...

Background: Schaaf-Yang syndrome is caused by heterozygous mutation in the MAGEL2 gene (605283) on chromosome 15q11. Schaaf-Yang Syndrome is an autosomal dominant multisystem disorder characterized by psychomotor and mental retardation, hypotension, and behavioral abnormalities. Additional signs include joint contractures, feeding difficulties and various dysmorphic features. The severity of the disorder varies greatly: some patients may live with moderate dis...

Objective: To highlight the clinical characteristics and early genetic diagnosis of Schaaf-Yang syndrome (SYS).Methods: Three cases were reported and related literature were reviewed.Results: All the three patients were diagnosed with Schaaf-Yang syndrome attributing to the variation of MAGEL2 gene. Two of the patients predominantly presented as "language dysplasia&#34...

Background/Aims: Schaaf-Yang syndrome (SYS) is a rare disorder caused by a truncating mutation in the gene MAGEL2, located in the Prader-Willi critical region on chromosome 15. SYS is characterized as a Prader-Willi-like (PWL) disorder, with neonatal hypotonia, feeding problems in early infancy and intellectual disability, obesity and behavioral problems throughout childhood. In this case report we describe a 15-year-old girl, receiving GH treatment since age ...

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...

Background: Central precocious puberty is defined by the onset of breast development before the age of 8 year in girls. Approximately 90% of girls have an idiopathic formwithoutstructural central nervous system (CNS) abnormality. It is controversial that all girl with central precocious puberty (CPP) should undergo brain magnetic resonance imaging (MRI) for intracranial pathology.To evaluate the outcome of brain MRI in girls with CPP and to identify the cl...

Objective: Studies on 5α-reductase type 2 deficiency (5α-RD) are limited and the genotype-phenotype correlation has not been elucidated. The aim of the study was to analyze clinical and molecular characteristics, genotype-phenotype correlation in a large Chinese 5α-RD cohort.Design: Database registration study.Method: We analyzed clinical and genetic data of gene con...