ESPE Abstracts

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: 5α - reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease which has an incidence of 11.2%–15.5% among population with 46, XY DSD (disorders of sex development).Objective: To study the growth pattern in Chinese pediatric patients with 5αRD.Subjects: Data were from 187 patients with 5αRD (age from 0–16 years old,with homozygous or compound heterozygous mutations in ...

The action of Thyroid hormone (T3) is mediated by the binding to nuclear receptors (TRa1, TRα1/2), which are ligand dependent transcription factors, encoded by the THRA and THRB genes. THRA germline mutations cause a rare genetic disease called resistance to thyroid hormone α (RTHα) first reported in 2012 . Only 20 missense and frameshift mutations have been reported to date, From this small group of patients, and analysis of animal models, it emerges that the d...

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...

Background: Studies about the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in Chinese children are less.Objective and hypotheses: Study the genotypes of Chinese probands with salt-wasting form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed pedigree-based linkage analysis.Method: We have performed genetic-testing (Method...

Objective: To assess the serum levels of IL-6, TNF-a and Omentin-1 in girls with Turner Syndrome (TS) and to analyze their association with FPG, FINS, TC, TG, HDL-c, LDL-c, and BMISDS.Methods: In total of 33 TS girls aged (12.8±3.9) yr and 33 age-matched normal girls aged (12.6±3.7) yr were recruited in the study. Height (Ht) and Weight (Wt) were measured; FPG, FINS, TC, TG, HDL-c, LDL-c, IGF-1 and E2 were also measured; BMI and BMISDS were cal...

Objective: To know more about the etiology and mechanism of antibody-negative diabetes, screening MODY pathogenicity genes and deepening understanding of islet autoantibody-negative diabetes, so as to individualized precision treatment.Methods: A total of 31 subjects with diabetes who had negative islet autoantibodies and C-peptide ≥0.3 ng/ml were collected. Another group was the type 1 diabetes control group, After informed consent obtained patien...

Objective: To screen and identify serum differentially expressed proteins in girls with rapidly progressing central precocious puberty and healthy girls by proteomics. Methods: 15 idiopathic central precocious puberty girls and 15 healthy children were admitted to the Children’s Hospital of Suzhou University from August 2017 to October 2018.After mixing in the group, the high-abundance protein was removed and quantified ...

Objective: This study aimed to investigate the therapeutic effects of recombinant human GH (rhGH) combined with low-dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).Method: A total of 47 girls with TS were treated with rhGH (47.6–52.4 μg/kg per day) and low-dose stanozolol (20–35 μg/kg per day), starting at a mean age of 12.57±1.96 year. The control group consisted of 26 girls with TS,...

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...