ESPE Abstracts

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...

Background: X-linked Adrenal Hypoplasia Congenita (AHC) is a very rare hereditary cause of pediatric primary adrenal insufficiency (PAI). Congenital adrenal hyperplasia (CAH) due to 21-hydrolase deficiency(21OHD) is most common hereditary cause of pediatric PAI with autodominal recessive inheritance.Objective: To present a Chinese boy with PAI with the pathogenic mutation of NROB1 and Double mutants in cis of CYP21A2 gen...

Purpose: To evaluate the efficacy of GH in improving FAH in ISS children in a multicenter study.Methods: A real-world observation was carried out. Children with ISS in seven hospitals in China were enrolled. The height gain standard deviation score and the height gain over the target height were evaluated.Results: There were 344 ISS patients (217 boys and 127 girls). The baseline a...

Background: Fibroblast growth factor receptor 3 (FGFR3) is a negative regulator of skeletal development. Gain-of-function point mutations in FGFR3 are responsible for hypochondroplasia (HCH), one of the most common forms of dwarfism in humans. Autophagy is an evolutionarily conserved catabolic process, which is indispensable for cell homeostasis maintenance and stress responses. Dysregulation at the level of autophagic activity consequently disturbs the chondr...

Background: Despite many similarities between the structure, receptors and proliferative and growth promoting actions, the interrelationship between PRL and GH in clinical conditions has received little attention.Aim: To determine the PRL response to GH stimulation tests.Subjects: Prepubertal and early pubertal boys (n=581) and girls (n=502) with short stature.</p...

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: Insulin resistance in obesity and type 2 diabetes is associated with abnormalities in mitochondrial oxidative phosphorylation in skeletal muscle. Whether mitochondrial function changes in hepatocytes with hereditary insulin resistance is not clear. Type A Insulin Resistance Syndrome (TAIRS) is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone ins...

Objective: Thyroxine binding globulin (TBG) is the most important thyroid hormone transporter in humans and is encoded by the SERPINA7 gene located on chromosome Xq22.2. By analyzing the genes of TBG-deficient patients, we aim to find a new molecular basis for the possible etiology of the disease.Design and Methods: 10 groups of subjects were enrolled in the pediatric department of the First Affiliated Hospital of Zhejia...

Background: The incidence of obesity, especially in children, have dramatically increased over the last few decades. Recently, studies highlighted the involvement of gut microbiota in the pathophysiology of obesity. Gender-related differences have been reported in animal and adult. Nonetheless, reports related on the features of gut microbiota in children with obesity is limited and no one reported the different composition of gut microbiota at different sex o...

Background: Childhood obesity has been a worrisome public health issues today. Recent studies conducted in adult populations and animals have suggested beneficial effects of probiotics on obesity, while, the experience is limited in the pediatric age group and the results are conflict.Object: The primary objective was to determine the effect of Probiotics consumption on weight change. The secondary objective was to deter...