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: Hyperglycaemia is a common occurrence during the treatment for paediatric acute lymphoblastic leukaemia (ALL). Emergence of new evidence exhibits conflicting results. The incidence of hyperglycaemia during chemotherapy has not been well described in the Asian population.Objective and hypotheses: The aim of study is to delineate the characteristics of paediatric patients at risk for hyperglycaemia during chemotherapy.Met...

Background: The growth pattern of normal children was inappropriately used to evaluate those who with DSD.Objective: To understand growth and development of the 46, XY disorders of sex development (DSD) children, drawing height, weight and BMI curve of children with 46, XY DSD at the age of 0–16.Method: The registration database was used in this study. Non- CAH 0-16 years old 46, XY DSDs were collected. Growth curves were fitt...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which is the master hormone regulating the reproductive axis. CHH can be divided into Kallmann syndrome (KS) with dysosmia and normosmic Congenital hypogonadotropic hypogonadism (nCHH) according to the presence or absence of an olfactory disorder.Methods:</...

Key words: growth hormone defificiency，growth hormone, height，bone ageObjective: To evaluate the height and bone age (BA) of prepubertal growth hormone deficiency (GHD) children in the first year after long-term growth hormone treatment.Methods: According to the degree of bone age lag before treatment，36 prepubertal GHD children were divided into two groups&#xF...

Objective: To assess the efficacy and influential factors of GnRHa treatment for Chinese CPP/EFP boys.Methods: From April, 1994 to June, 2020, 94 boys diagnosed with CPP or EFP who had reached the final adult height were retrospectively included. Among these patients, 41 patients received no treatment, 43 patients received GnRHa treatment alone and 10 patients received GnRHa + GH treatment. The final adult height and the...

Objective: To analyze the clinical characteristics and treatment of non-germinomatous germ cell tumor (NGGCT) in one girl with the initial onset of homosexual peripheral precocious puberty (PPP) and central diabetes insipidus (CDI) and eventually progressed into central precocious puberty (CPP).Methods: The clinical data of a girl who was diagnosed as NGGCT with the onset of PPP and CDI and eventually progressed into CPP...

Background: Cantu´ syndrome is rare disease characterized by characterized by congenital hypertrichosis, neonatal macrosomia, cardiomegaly and several other abnormalities. Gain-of-function mutations in either KCNJ8 or ABCC9 have been identified as the causative gene for Cantu´ syndrome. Here we report the first genetically diagnosed Cantu´ syndrome case in China and describe the full clinical features of the case.<p class="...

We have examined a male child patient aged about 15 years old to confirm the diagnosis of adrenal hypoplasia congenital (AHC) at the Genetics in-patient department, Children's Hospital Affiliated to Zhengzhou University.When the child was 5 years and 9 months,he was diagnosed as abmormal phenotypic characteristics who had skin hyperpigmentation, penis enlargement, rapid growth over the past 2 years, along with fatigue, drowsiness, and pubic hair appearing for 2 months.Base...

Objective To study a large Chinese family with Type A Insulin Resistance Syndrome (TAIRS) and the members’ clinical phenotypes. Explore their genotype-phenotype relationship between environmental factors and hereditary features. Methods 19 members of the family were investigated for their past history, dietary habits and living habits. PCR and Sanger sequencing were applied to detect mutations of the INSR gene among 6 core members from the Pedigree. Besides, fasting blood...