ESPE Abstracts

An association between Turner syndrome (TS) and Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is rare. TS is caused by partial or complete loss of the second sexual chromosome which leads to genital system malformation and infertility. 21-hydroxylase deficiency is a well-known cause of disorder of sexual development in genotypic female neonates.The aim of our study is to report this patient and stress this rare possibility. A 8-month-old patient sufferi...

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

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...

Background: Mosaic variegated aneuploidy syndrome（MVA）is a rare genetic disease characterized by mosaic aneuploidies, intrauterine growth restriction, developmental delay, microcephaly, facial dysmorphism, mental retardation, and susceptibility to tumor. It is autosomal recessive and caused by mutations in BUB1B, CEP57, and TRIP13. This study hereby presents a 9-year-old girl with intrauterine growth restriction, short stature, microcephaly, faci...

Purpose: Turner Syndrome (TS) is a common chromosomal disorder in females, affecting approximately 3% of female conceptions. At present, the diagnosis of TS largely relies on karyotype testing and related technologies. The issuance of such tests depends on the experience of doctors and the analysis of reports takes more than a week, which leads to a high misdiagnosis rate for TS. Therefore, our objective is to facilitate swift and accurate identification of TS...

Introduction: Alstrom syndrome, inherited in autosomal-recessive manner, is a complex multi-system disease including obesity, sensorineural hearing loss, retinal dystrophy, cardiomyopathy, type 2 diabetes mellitus, and multiple organ fibrosis. ALMS1 is the defective protein of Alstrom syndrome. The protein is located in the basal body of the primary cilia and involved in ciliary function. Large cohorts of Alstrom syndrome lack around the world, especially in E...

Objective: To investigate the feasibility of constructing a linear regression model to predict the remaining growth potential of adolescent boys based on the radiomics features of knee DR images and clinical characteristics.Methods: Twenty-four adolescent boys with normal growth and whose knee epiphyses had not yet closed were included in the study of anterior posterio DR images of the knee and the height at the time of ...

Quantitative analysis of endogenous and exogenous steroid hormones is an important step for our understanding of the causes of endocrine disorders in pediatric. In this study, we developed a method to simultaneously quantify endogenous and exogenous steroids in pediatric urine and plasma. Ultra-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to simultaneously quantify steroid hormones in children plasma and urine. Under the optimum conditions, th...