ESPE Abstracts

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...

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...

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...