ESPE Abstracts

Background: In adolescents, as much as 51% of peak bone mass is accumulating and reaching 40% of bone mineral density (BMD) of adults. There are inconsistent reports on the associations between birth weight (BW) and bone mineral contents (BMC) in adolescents.Objective and hypotheses: We try to investigate the association between BW and BMC in adolescents.Method: Dual-energy x-ray aborptiometry assessment (DXA) of 10–18 adolesc...

Background: Insufficient data exist for the prediction of the first-year response to growth hormone (GH) treatment in Korean prepubertal children with idiopathic GH deficiency (GHD).Methods: Data from children (n = 345) who were in the LG Growth Study Database or had participated in other relevant clinical trials were used to develop a model. All included patients had been diagnosed with idiopathic GHD with maximum G...

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: The GHR-exon3 and the -202 A/C IGFBP3 polymorphisms have been suggested to affect responses to recombinant human GH (rhGH) therapy in some individuals with short stature. This study aimed to assess the influences of the two polymorphisms on treatment outcomes in patients with GH deficiency (GHD).Method: In 72 (32 girls and 40 boys) children with confirmed diagnosis of GHD, genotyping and serial measurements of auxological and endocrinological...

Background: MODY includes a very heterogenous group of monogenic diabetes mellitus characterized by beta-islet cell dysfuction. We previously reported 3 new gene mutations of PTPRD, SYT9 and WFS1 in Korean MODY children (Horm Res Paediatr,2015). We investigated whether the PTPRD, SYT9 and WFS1 mutation overexpression vectors affect insulin synthesis and secretion in human pancreatic beta cells.Materials & Methods: We...

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...

Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant condition caused by a loss-of-function mutation in tumor suppressor genes TSC1/TSC2 which are involved in the inhibition of mTOR signaling implicated in cell proliferation. Major clinical features includes cardiac rhabdomyomas, renal cysts, epilepsy associated to cerebral dysplasia evidenced by cortical tubers and skin manifestation as: angiofibromas, fibrous plaques and the Shagreen patch...

Background: Hypertension is the leading cause of cardiovascular disease worldwide and both high and low blood pressures are associated with various chronic disease. Thyroid hormones have profound effects on cardiovascular function, including effects on blood pressure.Objective and hypotheses: Recent studies suggest that early life high blood pressure could be attributed to hypertension in late adulthood. Therefore, we aimed to investigate the association...

X-linked dominant hypophosphatemic rickets (XLH) are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The woman has a history of multiple surgical treatments because of lower limb deformities. Through additional quest...

Background: The achievement and maintenance of normoglycemia is one of the most important goals to prevent both short and long-term complications in type 1 diabetes mellitus (T1DM). As carbohydrate acts as the primary macronutrient affecting postprandial glycemic response, carbohydrate counting is crucial in adjusting prandial insulin doses to preserve postprandial blood glucose within normal limits. The purpose of this study is to examine the effect for carbo...