ESPE Abstracts

Objectives: This study was performed to evaluate effectiveness on near-adult height (NAH) and safety of recombinant human growth hormone (rhGH) (Eutropin® Inj., Eutropin®Plus Inj., Eutropin®AQ Inj., LG Chem, Ltd.) treatment in children with growth hormone deficiency (GHD) and Turner syndrome (TS).Methods: The LG Growth Study (LGS) is a multicenter, long-term, observational study designed to evaluate the lon...

Patients with Disorders of sex development (DSD) can present with a large phenotypic spectrum and caused by a number of different genetic defects. Therefore, it is difficult to reach a specific diagnosis using traditional approaches including biochemical analysis and single gene sequencing in a number of patients with DSD. Recently, next-generation sequencing technologies have revolutionized the identification of causative genes with diseases with genetic heterogeneity using m...

Background: The weekly sustained-release growth hormone (GH) has been approved for treatment in growth hormone deficiency (GHD). It provides a practical strategy for improving adherence.Objective and hypotheses: To evaluate the long-term safety and effectiveness of two formulations of daily (Eutropin®) and weekly (EutropinPlus®) GH in Korean pediatric GHD patients.Method: A multicenter, long-term, pr...

Background: Over 4 years, 1,526 patients received Eutropin® and EutropinPlus® (recombinant human growth hormone (GH), LG Life Sciences, Ltd.) while enrolled in the LG Growth Study (LGS), designed to monitor the long-term effectiveness and safety of GH. We present LGS experience for GH treatment during 4 years in growth hormone deficiency (GHD)Objective and hypotheses: To evaluate the long-term safety and efficacy of Eutrop...

Background: The Toll-like receptors are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: We aimed to assess the association of TLRs polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: We define the polymorphism of TLR10, rs4129009, rs11096956, rs10004195 in 85 Korean AITD (GD=50, HD=35; M=16, F=69, mean age=12.9 3.1 years)...

Background: Increased arterial stiffness may precede cardiovascular complications in patients with type 1 diabetes (T1DM). As the autonomic nervous system is responsible for regulating heart rate and vascular tone, autonomic dysfunction may contribute to increased arterial stiffness in patients with T1DM.Objective and hypotheses: We investigated whether decreased heart rate variability (HRV) was associated arterial stiffness index (ASI) in patients with ...

Background: A large proportion of the increased mortality in Turner syndrome (TS) is related to cardiovascular complications. Increased arterial stiffness may be an important predictor related to cardiovascular complications. A novel method of evaluating arterial stiffness, relatively independent of changes in blood pressure (BP), is the cardio-ankle vascular index (CAVI).Objective and hypotheses: The aim of this study was to compare arterial stiffness u...

Background: The phenotypic manifestations in the 45,X/46,XY karyotype is diverse and there are challenges in management due to this diversity.Objective and hypotheses: The aim of this study was to describe the clinical spectrum of 45,X/46,XY mosaicism and variants diagnosed in childhood.Method: A retrospective review of 20 patients with 45,X/46,XY (n=7) and its variants ((45,X/46,X,der(Y) (n=12)) and 46,X,der(X),t...

Background: Obesity is a well-recognized complication of craniopharyngioma. Increased hypothalamic involvement (HI) by the tumour and accordant treatment has been associated with greater obesity. Changes in hypothalamic control of the autonomic nervous system (ANS) have been implicated in the development of hypothalamic obesity however, long term changes in the ANS have not been assessed.Objective and hypotheses: We aimed to evaluate ANS activity using h...

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...