ESPE Abstracts

Background: Growth failure and abnormal plasma glucose level are common in patients with thalassemia major (TM), which are usually due to iron overload after repeated blood transfusion. Patients after successful bone marrow transplantation (BMT) will be free from further blood transfusion and thus spared from complications of iron overload. This study aimed at determining the incidence of abnormal glucose level in TM patients and studying the height difference between the TM p...

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. This study aimed at determining the incidence of diabetes mellitus (DM) and studying the potential factors responsible for secondary DM of TM patients.Objective and hypotheses: A total of 54 (33 male) transfusion-dependent TM patients were in the ‘TM group ’; 25 age- and gender-matched healthy children were recruited as the &#145...

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. Previous studies had shown associations between some endocrinopathies and iron overload of the myocardium, liver as assessed by MRI techniques. This study aimed at determining the relationship among cardiac T2*, liver T2* and abnormal glucose in TM patients.Objective and hypotheses: A total of 34 (27 male) transfusion-dependent TM patients...

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 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...

Objective: The functional status and influencing factors of pancreatic beta cells in patients with β-thalassemia major (β-TM) were investigated.Methods: A cross-sectional study was conducted in 88 patients with β-TM, with an average age of 11.3±5.6 years. Thirty-two healthy subjects were selected as the control group. FBG, FINS, HOMA-IRI, HMOA-ISIand HOMA-β FI were calculated between ...

An increased iron overload led to a disorder in glucose metabolism. However, the mechanism through which iron overload induces beta cell death remains unknown. The present study revealed that ferric ammonium citrate treatment inhibited cell viability in vitro, induced a decline in mitochondrial membrane potential, increased oxidative stress and activated mitophagy. These effects could be alleviated by a reactive oxygen species scavenger. In summary, we demonstrated th...

Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2 gene is the most common form of CAH. This study aims to analyze the phenotype-genotype correlation and the characteristics of gene mutation frequency of 21-OHD patients in China, helping to provide evidence for clinical practice and genetic counseling of 21-OHD patie...

Background: 5α-reductase type 2 deficiency is a rare autosomal recessive hereditary disease. SRD5A2 gene defects lead to dysfunction of 5α-reductase type 2, that impair the conversion of testosterone to dihydrotestosterone and cause clinical features.Objective and hypotheses: To analyze the clinical manifestations and gene mutations of 5α-reductase type 2 deficiency in childhood.Method: The clinical features, laborat...