ESPE Abstracts

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...

Objective and hypotheses: The purpose was to get the basic data of optimum serum concentration of estrogen in maximizing pubertal growth spurt, and decreasing the acceleration of epiphyseal closure of long bones.Method: i) Fifteen female SD rats (13-week aged; post pubertal growth spurt) were randomly divided into three groups. After 1 week, the group 1 were injected subcutaneously with sesame oil, as a control, group 2 were with 10 μg/kg per week o...

Background: Maturity-onset diabetes of the young (MODY) is one of monogenic diabetes caused by a single gene defect. To date, 13 MODY genes have been identified. However, there is big discrepancy in genetic locus between the Asian MODY patients and Caucasian’s one.Objective and hypotheses: We conducted the whole exome sequencing in Korean clinical MODY families to identify novel variants for MODY and compare the result with Caucasian’s one....

Background: Central precocious puberty (CPP) is mostly idiopathic, however, familial cases of CPP and evidence of genetic factors on pubertal timing by genome-wide association studies suggested genetic causes of CPP.Objective and hypotheses: Molecular defects in six genes (KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3) have been known to cause early activation of the hypothalamic-pituitary–gonad...

Background: A 3-year-old boy appeared healthy at birth and did not experience any fractures until 12 months of age. Blue sclera, frequent fractures without adequate trauma, nearly normal stature, the absence of dentinogenesis imperfecta, no bony deformity, and no limitation of mobility were characteristics suggestive of OI type I that were observed in the patient. The patient’s mother had blue sclera and a history of frequent fracture episodes until the age of 15 years.</...

Background: Craniopharyngioma is the most common parasellar tumor in childhood arising from remnants of Rathke’s pouch. As the hypothalamus plays a vital role in regulation of body weight by balancing energy intake and expenditure, hypothalamic damage by structural lesions is one of the most common causes of hypothalamic obesity. This study investigated prevalence, risk factors for the development of hypothalamic obesity, and consequent morbidities in children following t...

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

Background: Achondroplasia is the most common condition characterized by disproportionate short stature. Patients with achondroplasia progressively fall below normal standards for length and height. GH has been widely used to treat short stature with or without GH deficiency (GHD).Objective and hypotheses: The purpose of the present study was to clarify the effectiveness of GH therapy on short stature in achondroplasia.Method: The ...

Background: Osteogenesis imperfecta (OI) includes a group of disorders with a susceptibility to bone fractures, the presentation ranging from slightly increased fracture frequency to death in the perinatal period.Objective and hypotheses: Autosomal-dominant inheritance with type I collagen biosynthesis defects is the most common, but many autosomal-recessive genes have been previously reported.Method: Whole-exome sequencing was per...

Background: Recombinant human GH (rhGH) therapy requires daily s.c. injections, this inconvenient treatment regimen results to poor compliance of the patient. Thus, to improve patient compliance, long-acting rhGH products including various protein fusion techniques have been in development during past 15 years.Objective and hypotheses: In this study, we describe the pharmacokinetics and efficacy of a novel long-acting GH using Fc fusion protein (rhGH-Fc)...