ESPE Abstracts

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...

Acromicric dysplasia AD）is a relatively rare congenital disease characterized by server short stature、short extremities、and progressive joint limitation. The skeletal dysplasia significantly affects the physical and mental health of children and adolescents. FBN1 heterozygous point mutations in TB5 domain have been proposed as the predominant cause of AD. While upregulation of TGF-β signaling has been proposed as the underlying molecular mech...

Objective: Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21, which also be called Xp21 contiguous gene deletion syndrome. Patients with CGKD present with features characteristic for adrenal hypoplasia congenita (AHC), glycerol kinase deficiency (GKD), Duchenne muscular dystrophy (DMD) and sometimes intellectual disability or hyper...

Background: Objective to determine the efficacy of short-term rhGH treatment on metabolic indices in TGHD patients by comparing the changes in blood glucose and lipid levels before and after rhGH replacement therapy.Methods: The levels of metabolic indices (AST, ALT, TC, TG, HDL-C, LDL-C, FBG, GA, and URIC) in their basic state in TGHD patients were recorded, and differences in these levels between the TGHD and control g...

Background: 46, XY disorders of sex development (DSD) due to 17-beta-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency significantly affect male sex development. Understanding the histological changes from infancy to adulthood in these patients remains limited. This study presents six patients with 17β-HSD3 deficiency from a single center, including China’s first prenatally diagnosed and postnatally confirmed case, and conducts a system...

We present two cases of a 13-year-old boy and a 12-year-old girl who were initially diagnosed as central diabetes insipidus (CDI). The Magnetic resonance imaging (MRI) showed pituitary stalk thickening with prominent homogeneous contrast enhancement in T1W and the loss of high signal in the posterior pituitary. In addition to CDI, the two children have a common clinical manifestation of growth retardation, with the laboratory tests suggesting complete growth hormone deficiency...

Objective: To analyze the clinical features and causative genes in children with undiagnosed short stature and study the causative genes in our hospital. Methods Clinical manifestations, laboratory test and whole exome sequencing (WES) results of children with undiagnosed short stature who visited pediatric endocrinology department of our hospital from January 2018 to August 2019 were analyzed retrospectively. Causative genes were classified and analyzed accor...

Background: Hypothalamic hamartoma (HH) is the most common cause of organic central precocious puberty (CPP). Gonadotropin-releasing hormone analogue (GnRHa) is widely used in the treatment of HH combined with CPP, but there is no report on the medium-and long-term efficacy and safety of HH in China.Objective: To investigate the medium-and long-term efficacy and safety of GnRHa in the treatment of children with CPP cause...

Background: Current data from genome wide association studies (GWAS) explains 24.6% of the variation in adult height from 3290 single nucleotide polymorphisms (SNPs)1. Data on the genetic control of growth velocity during childhood is more limited and no previous studies have linked childhood growth to changes in the transcriptome (gene expression) or epigenome (DNA methylation). Here we present a systems biology approach to understand mid-child...

Background and Aims: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are rare skeletal dysplasia belonging to the group of acromelic dysplasia and are both characterized by severe short stature, short hands and feet, stiff joints, facial anomalies and some radiological manifestations, including delayed bone age, shortened long tubular bones and ovoid vertebral bodies. Patients with GD clinically present the characteristic "happy" facial featur...