ESPE Abstracts

Backgroud: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inherited disorder of gluconeogenesis, which caused by the mutations in the FBP1 gene. FBPase deficiency is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis. If diagnosed early, the prognosis of this disorder is excellent by the prevention of hypoglycemia and avoidance of intake of fructose and sucrose. However, the misdiagnosis of FBPase defi...

Objective: Gonadotropin-releasing hormone agonists (GnRHa) are the treatment of choice for central precocious puberty (CPP) and have been widely used for decades. We determined the effect of GnRHa treatment on auxological outcomes of girls with idiopathic CPP.Methods: This study included 84 girls treated monthly with depot leuprolide acetate who had reached adult height. We compared their final adult height (FAH) with their initial predicted adult height...

Objective: To investigate whether earlier mother’s age at menarche is a risk factor of daughter’s early menarche, obesity, and short stature in young Korean female.Research design and methods: We tested associations between mother’s age at menarche, mother’s adult body size and her daughter’s age at menarche, body size from the data of 6th Korea National Health and Nutrition Examination Survey (KNHANES VI) (2013–2015). We an...

Objective: Central precocious puberty (CPP) is characterized by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Early activation of hypothalamic-gonadal axis is influenced by both environmental and genetic factors. Especially, genetic factors have critical role of pubertal progression, but mutations associated with CPP have only been discovered in three genes: KISS1, KISS1R, and MKRN3. The aim of thi...

Objective: To observe vaginal opening day (VOD), hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression level changes in neonatal rats exposure to different doses of bisphenol-A(BPA).Methods: Neonatal female SD rats were randomly divided into six groups: control group, vehicle group, 17β-estradiol group (17β-estradiol, E2,10 μg/kg per day), low-dose BPA group (25 μg/kg per day), medium-dose BPA group (50 μg/...

Background: Congenital hypothyroidism is the most common neonatal metabolic disorder and detected at a rate of 1 in 3000 to 4000 live births. Compared to congenital hypothyroidism caused by defects in thyroid development leading to thyroid dysgenesis, thyroid dyshormonogenesis has tendency to be detected at older age and its clinical manifestations are individually different. Thus, to evaluate exact causes and predict clinical course for congenital thyroid dys...

Heterozygous mutations in the ACAN, encoding for aggrecan or cartilage-specific proteoglycan protein, are associated with short stature with advanced skeletal maturation and skeletal dysplasia. A 2 years 7 month-old girl born small for gestational age presented with proportionate short stature (height 79.9 cm, SDS, −3.23) and bone age was delayed about 1year less than her chronologic age. She was born as small for gestational age.(38 weeks and 5 days of gestatio...

Background: We investigated the relationship of birth anthropometry with cord blood insulin-like growth factor 1 (IGF-1) and leptin levels in Korean infants born at ≥28 weeks' gestation.Methods: One hundred five appropriate-for-gestational-age (AGA) infants, defined as infants with birth weights (BWs) between the 10th and 90th percentiles for gestational age, were enrolled. Enrolled infants were stratified into...

Background & Aims: Although, there has been reports demonstrating association between adult-onset hypopituitarism and development of nonalcoholic fatty liver disease (NAFLD), studies are lacking regarding the development of NAFLD in children and young adult with childhood-onset hypopituitarism. We aimed to identify association between NAFLD and hypopituitarism in these patients.Methods: 76 Korean children and young a...

Background: Congenital adrenal hyperplasia (CAH), mostly caused by 21-hydroxylase deficiency, is autosomal recessive disorder characterized by impaired cortisol synthesis. It can be presented with a combination of aldosterone and cortisol deficiency and androgen excess. Therefore, excess production of androgen and glucocorticoid replacement can result to early bone maturation and ultimately diminished adult height (AH).Objectives...