hrp0082p3-d3-951 | Puberty and Neuroendocrinology (1) | ESPE2014

Impact of Different Doses of Bisphenol-A on the Puberty of Female Rats

Linqi Chen , Fan Yang , Meifang Jin

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/...

hrp0082p3-d3-946 | Puberty and Neuroendocrinology (1) | ESPE2014

Impact of Bisphenol-A on the Puberty of Female Rats

Linqi Chen , Fan Yang , Meifang Jin , Haiying Wu

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 ...

hrp0089rfc13.3 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Circulating MKRN3, Kisspeptin and IGF-1 Levels in Girls During the Clinical Onset of Puberty

Ouyang Lixue , Yang Fan

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...

hrp0082p3-d1-810 | Growth | ESPE2014

The Role of IGF1R Gene Mutation in the Development of Oligodendrocytes

Yang Fan , Tang Mei , Li Hedong

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,...

hrp0092p2-200 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrine Features of Schaaf-Yang Syndrome. Case Report

Tolstikova Olena , Aharkov Serhii

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...

hrp0092p3-169 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Schaaf-Yang Syndrome:Three Cases Report of MAGEL2 Variation and Literature Review

Xuefei Chen , Chaochun Zou

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...

hrp0092p1-389 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Eight Years of Growth Hormone Treatment in a Patient with Schaaf-Yang Syndrome

Juriaans Alicia , Hokken-Koelega Anita

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 ...

hrp0084p3-783 | DSD | ESPE2015

Impact of Neonatal Exposure to Different Doses of Bisphenol A on the Hypothalamic-Pituitary-Testicle Axis in Male Rat

Chen Lin Qi , Zhou Wen Wen , Yang Fan , Wu Hai Ying , Jin Mei Fang

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...

hrp0092p1-137 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Brain MRI Findings in Girls with Central Precocious Puberty in Taiwan: One Medical Center Experience

Lo Fu-Sung , Chiu Chiao-Fan

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...

hrp0092p1-263 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Clinical and Molecular Characteristics, Genotype-Phenotype Correlation in 113 Chinese Children with SRD5A2 Gene Mutations

Fan Lijun , Gong Chunxiu , Song Yanning

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...