ESPE Abstracts

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe and extremely rare form of congenital adrenal hyperplasia (CAH). The typical features include 46, XY disorder of sex development (DSD), early-onset adrenal crisis and enlarged adrenal with fatty accumulation. We reported a case of congenital lipoid adrenal hyperplasia (CLAH) caused by steroidogenic acute regulatory protein (STAR) gene mutation. The patient had typical early-onset adrenal crisis at the age of 2 mon...

Background: SREAT is a rare entity in children, with about 60 cases described to date. It is characterised by acute encephalopathy, elevated anti-thyroid antibodies and exclusion of other causes of encephalopathy like infection, tumour, toxic or metabolic diseases. Typical presentations in children include behaviour changes, psychosis and seizures. The role of anti-thyroid antibodies in the pathogenesis is not clearly understood, and the titre level does not predict severity o...

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

Background: Non-alcoholic fatty liver disease (NAFLD) is a common chronic liver disease in both children and adults; however, the exact pathogenesis of NAFLD remains obscure. Accumulating evidence supports the effects of miRNA in the lipid metabolism and the regulation of insulin resistance, providing a potential linkage between the miRNA and NAFLD.Objective and Hypotheses: The aims of this study were to explore microRNA (miRNA) expression profiles in NA...

Background: Secondary diabetes in children, often rising from the treatment of the primary disease. However, not enough attention has been paid. We analyze the cases of secondary diabetes in children identified from 2002 to 2010 in our hospital for the frequency and clinical features, so as to gain a better understanding of the disease.Objective and hypotheses: To investigate the prevalence and association factors of secondary diabetes in Chinese hospita...

Objective: Evaluation the clinical efficacy of autologous hematopoietie stem cell transplantation and traditional insulin therapy.Methods: This is a case–control study. The subject investigated were diagnosed primary childhood type 1 diabetes in Beijing Children’s Hospital Endocrinology Centre, and there are 14 cases did the immune intervention combined with autologous hematopoietie stem cell transplantation in other hospital during the first 3...

Background: GH deficiency (GHD) occurs in one in 4000–one in 10 000 children, but can also be diagnosed in adults.1 GHD therapy typically requires injections over a period of years.2 Adherence to long-term GHT presents a challenge.Objective and hypotheses: This study describes the rates of adherence to GHT among patients with GHD.Method: Members who were continuously enrolled 6 months pre- and 12 months p...

Objective and hypotheses: To evaluate the long-term efficacy of triptorelin 3.75 mg subcutaneously injection every 6 weeks on final height in girls with ICPP.Method: Forty females with ICPP received triptorelin 3.75 mg every 6 weeks subcutaneously injection and reached FAH were collected. These patients were divided into two groups. Group A: GnRHa alone, n=17; group B: triptorelin+rhGH, n=23. During the treatment, height, weight, annual...

Background: Hypophosphatemic rickets (HR) is most commonly X-linked or autosomal dominant, but autosomal recessive (AR) forms have been described. ARHR1 (DMP1) and ARHR2 (ENPP1) share identical biochemical characteristics of excessive renal phosphate wasting due to increased circulating levels of the phosphatonin FGF23 and low serum levels of 1,25(OH)2D. By contrast, in hereditary hypophosphatemic rickets with hypercalciuria (HHRH) phosphaturia is ...

Background: Hypoparathyroidism may manifest either as an isolated disorder or as a component of a more complex syndrome. Molecular genetic studies indicate that mutations in PTH, CASR, GCM2 and GNA11 are causes of isolated hypoparathyroidism (IH) and mutations in GATA3, TBCE, FAM111A, AIRE and TBX1 are associated with different complex syndromes with hypoparathyroidism.Objec...