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...

Objective: To assess the serum levels of IL-6, TNF-a and Omentin-1 in girls with Turner Syndrome (TS) and to analyze their association with FPG, FINS, TC, TG, HDL-c, LDL-c, and BMISDS.Methods: In total of 33 TS girls aged (12.8±3.9) yr and 33 age-matched normal girls aged (12.6±3.7) yr were recruited in the study. Height (Ht) and Weight (Wt) were measured; FPG, FINS, TC, TG, HDL-c, LDL-c, IGF-1 and E2 were also measured; BMI and BMISDS were cal...

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: Ovarian adrenal rest tumors (OART) is a rare complication of congenital adrenal hyperplasia (CAH) and is not very well characterized yet.Objective and hypotheses: We report four cases of OART in Chinese girls with CAH due to 21-hydroxylase deficiency (21 OHD).Method: We describe the clinical, imaging, and surgical findings of the patients.Results: The four cases of CAH with OART included three sal...

Objective: We assessed in a retrospective unicenter study the effect on menstrual regularity of early menarche and treatment with GnRH analogs (GnRHa) in central precocious puberty (CPP) or early and fast puberty (EFP) girls.Methods: Six hundred and ten healthy girls were interviewed and their menarche age and menstrual interval were recorded. One hundred and sixty-nine CPP or EFP girls who were treated with GnRHa were fellowed up, and their menarche age...

Background: It is not yet clear whether the adult height (AH) is affected by the onset of puberty at 6 or 7 years old in girl in China.Objective and hypotheses: To evaluate AH in girl with the onset of puberty at 6 or 7 years old.Method: The standard of AH in girl was considered that their bone ages were equal to (or greater than) 15 years old or they were at least 3 years post-menarche. Eighty-two girls with the onset of puberty a...

Objective: We assessed in a retrospective unicenter study the effect on BMI of treatment with GnRH analogs (GnRHa) in central precocious puberty (CPP) or early and fast puberty (EFP) girls.Methods: The BMI of 318 girls (227 CPP and 91 EFP) who treated with GnRHa alone were analyzed. Among them 89 were followed up to their final adult hight (FAH).Results: Before GnRHa treatment started, the girls with CPP and EFP had a mean BMI SDS ...

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...