ESPE Abstracts

Purpose: To investigate overall characteristics of glucose intolerance in childhood survivors of hematologic diseases and suggest risk factors which increase A1c (glycated hemoglobin) level.Methods: Based on a retrospective review of 394 children who were diagnosed with acute leukemia or aplastic anemia between 2015 and 2016 under the age of 15, glucose intolerance was observed in 14 patients. A definition of glucose intolerance was A1c above 5.7%. Auxol...

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...

Purpose: We investigated the prevalence of subclinical hypothyroidism (SCH) and its risk factors in prepubertal children at age 6. We also evaluated the prevalence of thyroid nodule or cyst and its relationship with SCH in prepubertal children.Methods: From the Environment and Development of Children (EDC) cohort study, 458 prepubertal children (243 boys, mean 5.8 years) who visited at age 6 were included in this study. Serum concentrations of free thyro...

Objective: We try to investigate the polymorphisms and amino acid variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 molecules in early-onset AITD.Methods: The genotypes of HLA-A, B, C, DRB1, DQB1, and DPB1 on AITD were analyzed in 102 Korean children with AITDs (Graves’ disease (GD)=62, Hashimoto’s disease (HD)=40) and 142 healthy control using sequence-based typing. Analysis of variant amino acids was performed across the genotyping results with ...

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of precocious puberty (PP), café au lait spots, and fibrous dysplasia (FD). There are only a few patients with MAS in Korean because of the rarity of this disease. We reported the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. It is a retrospective cohort study of patients’ clinical data including about peripheral PP, FD. Also, treatment experie...

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, Objective and hypotheses: GX-H9 is a hybrid Fc-based long-acting recombinant human growth hormone (hGH). The safety, tolerability, and PK/PD of single ascending dose in healthy volunteers were assessed to determine GX-H9 doses capable of normalizing IGF-1 level. The PK/PD, safety, efficacy and tolerability of multiple sequential doses of GX-H9 in adult growth hormone deficiency (AGHD) were compared to that of a daily recombinant hGH in AGHD. A Phase 2 study in pedi...

Background: Hematopoietic stem cell transplantation (HSCT) recipients are at risk of endocrine complications as a result of chemotherapy and radiation therapy. Development of diabetes mellitus (DM) after HSCT is less frequently reported compared with other complications.Objective and hypotheses: We investigated clinical features of newly diagnosed DM after HSCT for treatment of childhood leukemia.Method: Between April 1999 and Marc...

Introduction: There are few longitudinal male cohort studies with serial assessments of growth and puberty.Objective: To describe the design and implementation of a longitudinal cohort study of Russian boys evaluated annually for growth, development and puberty.Design/methods: We assembled a multi-disciplinary team of U.S. and Russian researchers to design and conduct a longitudinal boys’ cohort study in Chapaevsk, Russia with...

Background: DMRT transcription factors are highly conserved regulators of metazoan sexual development. The role of DMRT1 in human primary sex-determination is unclear. Chromosome 9p deletions that remove one copy of DMRT1 are associated with 46,XY feminization and gonadal dysgenesis. While they suggest that DMRT1 is haploinsufficient for testicular development, these deletions usually remove other genes, including DMRT2 and DMRT3. Also, most 9p deletions cause incomplete gonad...