ESPE Abstracts

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-linked enzymopathy. Hemolysis during type 1 diabetes mellitus (T1DM) treatment in patients with G6PD deficiency has been reported, but the underlying pathogenesis is not fully clarified.Objective and hypotheses: We try to explore the association between the two diseases.Method: We report a girl in whom hemolysis occurred after diabetic ketoacidosis (DKA) treatme...

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...

Background: Rathke’s cleft cyst (RCC) has been reported rarely in children and adolescents. The occurrence of RCC with hypoplastic anterior pituitary can be explained by their common embryologic origin. However, the effects and sfety of recombinant human GH (rhGH) in GH deficient (GHD) children with RCC has not been previously reported.Objective and hypotheses: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) chi...

Background: Costello syndrome is a rare congenital disorder with characteristic findings involving multiple organ systems. The Costello Syndrome Family Network estimates that the birth prevalence in the United Kingdom is at least 1/500,000. So far, there has been only one affected individual reported in China.Objective and hypotheses: Diagnose the case of autosomal dominant Costello syndrome by direct squencing of HRAS gene. Analyze the correlation betwe...

Background: Childhood obesity is a major health concern worldwide which is associated with increased risk of chronic diseases such as metabolic syndrome (MS). MicroRNAs have been showed to play regulatory roles in several biological progresses such as adipocyte differentiation, glucose and lipid metabolism and insulin signaling pathway. The studies of the circulating miRNAs expressing involved in obesity and MS are of essential importance as it could lead to the identification...

Background: McCune-Albright Syndrome(MAS）is a rare disease caused by somatic gain-of-function mutations of the GNAS gene, presenting with fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is reported uncommon but potentially severe complication of MAS.Method: A prospective study was performed to evaluate the prevalence of the pit...

Background: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP)，rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...

Objective: To summarize the clinical features and genetic characteristics of a patient with multiple endocrine neoplasia type 2B (MEN2B) and to review the literatures.Methods: We summarized clinical features, gene sequencing result, treatment and prognosis of a child suffered with MEN2B who was admitted to the Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine in February 2016. And...

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...