ESPE Abstracts

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: 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...

Context: It has recently been shown that mutations of MKRN3, the gene encoding makorin RING-finger protein 3, lead to central precocious puberty (CPP). The aim of this study was to investigate mutations of the MKRN3 gene in Korean girls with CPP.Methods: Two hundred and sixty Korean girls with idiopathic CPP were included in this study. Auxological and endocrine parameters were measured. The entire MKRN3 gene was directly seque...

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...

Objective: Obesity is associated with bone age (BA) advancement of unclear etiology. In animal study, insulin may directly modulate skeletal growth. Our objective was to investigate the association with BA maturation and insulin levels in children with overweight and obesity.Methods: In this cross-sectional study of 42 prepubertal children, anthropometric data and hormonal values during oral glucose tolerance test were measured. Subjects were divided int...

Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism (CHI) caused by a mutation in the GLUD1 gene. It is characterized by hyperinsulinemic hypoglycemia accompanying hyperammonemia.Objective and hypotheses: We report HI/HA syndrome with a 4-month-old male who hypoglycemic seizure.Method: A 4-month-old male infant presented with seizure caused by fasting-induced hypoglycemia. At the time...

Background: It is not yet clear whether the adult height (AH) is affected by the onset of puberty at 6 or 7 years old in girl in China.Objective and hypotheses: To evaluate AH in girl with the onset of puberty at 6 or 7 years old.Method: The standard of AH in girl was considered that their bone ages were equal to (or greater than) 15 years old or they were at least 3 years post-menarche. Eighty-two girls with the onset of puberty a...

Background: GnRH agonist (GnRHa) are able to modify natural course of Central Precocious Puberty (CPP) in girls.Objective and hypotheses: We evaluated the etiology and the effect of GnRHa in Korean CPP boys.Method: Total 29 boys diagnosed for CPP from 2007 to 2012 were included in Ajou University Medical Center. Sellar MRI was performed in 26 of 29 patients (89.7%). CPP was diagnosed on the basis of i) onset evidence of testicular ...

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)...