ESPE Abstracts

Objective: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia due to CYP21A2 gene mutation. The aim of study is to expand CYP21A2 mutational spectrum in the Chinese population and to provide novel genetic information in terms of ethnic diversity.Methods: 95 Chinese suspected 21-OHD patients with phenotypes varying from salt-wasting (SW) to nonclassic symptoms w...

Background: Simple obese is a worldwide public health problem. Recent studies suggested a possible relationship between obese and vitamin D deficiency.Objective and hypotheses: To discuss the relationship between 25-Hdroxyvitamin D with glucose and lipid metabolism of simple obese in Chinese children.Method: 65 children with obeses (35 mild-to-moderate, 50 severe) and sixty-two children with normal weight were enrolled in this tria...

Background: The combination of Turner syndrome (TS) and congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is rare. These two diseases affect children’s growth and development through different endocrine hormone metabolic dysfunction.Case presentation: A patient suffering from ambiguous genitalia was referred to our hospital when she was 2 months old. Her length was 58 cm (+0.9 standard deviation, SD) and weigh...

Keywords: Primary ovarian insufficiency; Microsomal maintenance complex 8; Cell apoptosis; Cell cycle; PI3K/AKTBackground: Primary ovarian insufficiency (POI) with a chromosome karyotype of 46,XX in children, compared to adults, is difficult to diagnose and often seek medical attention due to delayed puberty or short stature. We have reported the two novel pathogenic mutations p.C242R and p.S445*of MCM8 gene in a pedigre...

Background: The correlation between free thyroid hormones and poor diabetic control in children with diabetic ketoacidosis (DKA) and the effects of thyroid hormone therapy on euthyroid sick syndrome (ESS) remain unclear.Objective and hypotheses: To investigate characteristics of ESS in children with DKA and the effects of thyroid hormone therapy on ESS. In children with DKA, free thyroid hormones may be associated with the severity of DKA and thyroid hor...

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare form of monogenic diabetes with onset less than 6 months of age. Together, activating mutations in KCNJ11 and ABCC8 genes, that encode the Kir6.2 andsulfonylurea receptor 1 (SUR1) subunits, respectively, account for nearly 50% of PNDM cases.Case report: We present a case reported a child diagnosed with PNDM resulting from a new mutation in the insulin (INS) gene, leading to severe hypergly...

Background and objectives: Dyslipidemia especially hypercholesterolemia attracts much more attention recently. Given different management and treatment of multiple categories, precise diagnosis becomes increasingly important. However, studies in pediatric patients lacks around the world, especially in China. Consequently, this study was designed to confirm the molecular defect of persistent hypercholesterolemia with next-generation sequencing basing on a singl...

Background: Vitamin D-dependent rickets type 3 (VDDR3) is a rare autosomal dominant inheritance disease, which is caused by the gain-of-function mutation in CYP3A4 (c.902T>C p.Ile301Thr).Case Presentation: We report the case of a 32-month-old boy presented with discomfort of both knee-joints, poor mobility, and gait abnormality when running. Laboratory examinations revealed low concentrations of serum calcium, phospho...

Objective: Asprosin, a novel peptide that has recently discovered as an important regulatory adipokine, is relevant to obesity in animals and adult humans. Little is known about its roles in children. The aim of the current study was to determine the potential role of asprosin and explore its relationship to various obesity-related markers in children with obesity.Methods: A cross-sectional study was conducted among 119 ...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations in the Forkhead/winged helix transcription factor (FOXP3) gene and is a rare disorder that increasingly has gained attention as a model of genetic autoimmunity. We report two Chinese families with IPEX and the sequencing of the FOXP3 gene.Methods: Two unrelated Chinese cases with IPEX were investigated. In case 1, the proband was a 4 month-y...