ESPE Abstracts

Objectives: Non-high-density lipoprotein (HDL) cholesterol is an alternative method to assess dyslipidemia and is not required fasting. We aimed to assess the validity of non-HDL cholesterol for detecting dyslipidemia among Korean adolescents.Subjects and Methods: Data for 6,989 adolescents aged 10 to 19 years (3,684 boys and 3,305 girls), were obtained from the Korean National Health and Nutrition Examination Surveys du...

Case description: A 14-year old boy with autoimmune hepatitis who was on long term oral steroids for 10 years, presented with acute onset lower back pain without preceding trauma. Lumbar spine radiograph showed severe osteopenia and compression fractures of vertebrae T12 to L1. Bone mineral density T-score at the lumbar region was −4.9. Biochemically, there was hypocalcaemia and severe hypophosphataemia with adjusted calcium 2.03 (2.20–2.65) mmol/l and phosphate 0.8...

Background: DMD is an X-linked recessive disorder, due to mutations of the DMD gene on Xp21, encoding dystrophin, characterized by high cytokines and progressive muscle degeneration, with loss of ambulation, increasing immobility and complicated by late cardio-respiratory failure. Use of high dose corticosteroid aims to prolong mobility, delay/reduce complications and to increase lifespan but adverse effects on bone health include bone loss and increased vertebral and long bon...

Background: Glucocorticoids play a major role in the treatment of lymphoblastic lymphoma. However, supraphysiological glucocorticoid therapy may cause the secondary adrenal insufficiency.Presentation of case: A 11-year-old boy with T cell lymphoblastic lymphoma, treated according to COG A5971 protocol, experienced sudden onset of tremor and general weakness in the first day after tapering 28 days of glucocorticoid therapy. He had a moon face and pigmenta...

Background: ALT-P1 (CJ-40002) is a long-acting recombinant growth hormone (GH) fused with NexP, which is a long-acting carrier developed by Alteogen Inc. NexP is a protein engineered recombinant alpha1 antitrypsin with further increased in vivo half-life without a native proteinase inhibitor activity. In non-clinical studies of cynomologus monkeys, the extended half-life of hGH-NexP has been successfully proved without side effects in high dose as 20 mg per kg dose.<p clas...

Background: Premature thelarche (PT) is a benign, non-progressive condition defined as isolated breast development without the activation of the hypothalamic-pituitary axis. While the pathophysiology of PT remains unclear, increased sensitivity to estrogen may cause PT.Objective and hypotheses: The aim of this study was to investigate the association between polymorphisms in the estrogen receptor alpha (ERα) gene and PT in girls.<p class="abstex...

Background: Few studies have investigated the long-term effects of gonadotropin releasing hormone (GnRH) agonist treatment on reproductive function.Objective and hypotheses: We assessed ovarian function by analyzing serum anti-mullerian hormone (AMH) levels in central precocious puberty (CPP) girls according to GnRH agonist-treatment timing.Method: Our study included 505 CPP girls subdivided into five groups based on the timing of ...

Background: Marfan syndrome is one of the most common over-growth conditions and the cardinal features occur in ocular, skeletal and cardiovascular systems. Clinical variation is common and signs are age-dependent.Case: A 9-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes plenus. Dil...

Background: Noonan syndrome is autosomal dominantly inherited disease with an incidence of 1:1000 to 1:2500 newborns. It is caused by different gene mutations involved in the RAS/MAP kinase signaling pathway in the cells. Phenotype including expression of dysmorphic features and visceral organ affection is variable. Different gene mutations are found in approximately 60–70% of tested patients.Objective and hypotheses: To report mutational analysis i...

Background: Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. Earlier and proper treatment is associated with better intellectual outcomes.Objective and hypotheses: The aim of the present study was to evaluate intellectual outcome of children with diagnosed congenital hypothyroidism (CH) and early onset treatment.Method: We retrospectively reviewed the medical record of 43 childre...