Purpose : Craniopharyngiomas are often accompanied by severe endocrine disorders. Although there is universal growth hormone deficiency(GHD), the resulting growth pattern is very heterogeneous. We report the growth and endocrine outcome of 44 children with craniopharyngioma, with emphasis on initial symptoms, growth before and during growth hormone(GH) treatment and spontaneous growth in spite of GHD. Methods : We performed a... |
Purpose : Obesity is closely related to insulin resistance, compensatory hyperinsulinemia and dyslipidemia in adults. We identified the effect of obesity measured by BMI and insulin resistance on dyslipidemia in children and adolescents. Methods : The fasting serum insulin, glucose, total cholesterol, triglyceride, HDL- and LDL-cholesterol were measured and insulin resistance(HOMA-IR) was calculated in 35 children with simple obesity(age :... |
Purpose : The incidence of type 2 diabetes in children and adolescents has been reported to increase recently. The aim of this study is to investigate the clinical features of type 2 diabetes developing during childhood and adolescent period. Methods : The medical records of 33 patients with type 2 diabetes were reviewed. We analysed clinical manifestations, demographic data, and modes... |
Purpose : Dynamics of bone mineral density(BMD) and bone metabolism in children and adolescents with hyperthyroidism have not been thoroughly investigated. The aim of this study was to study how the improvement of thyroid function with antithyroid treatment influenced bone metabolism and BMD in children and adolescents with hyperthyroidism. Methods : Serum levels of osteocalcin(OC), bone-specific alkaline phosphatase(b-ALP), and carboxyterminal telopeptide... |
Purpose : The development of external genitalia in genetic male is dependent on the transcriptional regulatory activity of dihydrotestosterone(DHT)-androgen receptor complex in the genital skin. The abnormality of androgen receptor encompasses a wide range of phenotypes. We investigated the androgen receptor binding capacity of genetic males with ambiguous genitalia(grade was determined by Prader grade) for the availability as screening test. Methods : The binding capacity... |
Purpose : We observed the prevalence rate of microalbuminuria(MA) and its relationship with the various clinical factors in children and adolescents with type 1 diabetes mellitus(DM). Methods : Seventy two children and adolescents(26 males and 46 females, 17.1±3.0 years) were included. MA was defined as 24 hour urine microalbumin >30mg/day(20μg/min). Subjects were classified into three groups(normoalbuminuria, transient MA, or persistent MA).... |
Purpose : Williams syndrome(WS) is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. We evaluated the physical, neurodevelopmental, and behavioral characteristics of children and adults with WS confirmed by fluorescence in situ hybridization. Methods : The clinically suspicious twelve cases with cardiac anomaly were confirmed as WS with fluorescence in... |
Purpose : Congenital chloride diarrhea(CLD) is an autosomal recessive disease characterized by life-long watery diarrhea of prenatal onset with high fecal Cl- concentration. Recent studies have revealed that the protein product of the down-regulated in adenoma(DRA) gene is an intestinal anion transporter molecule and causes CLD when mutated. We investigated the clinical characteristics of CLD in Korean infants in order... |
Purpose : There have been high rates of false positive and recall in neonatal screening test using the cut-off points set by the manufacturing company. So, it is necessary to re-evaluate the cut off values to minimize the false positive rates. Methods : We collected capillary blood in dry filter paper from 996 healthy neonates on the third day in cases... |
Purpose : Postnatally, 20% of children with intrauterine growth retardation(IUGR) has no catch- up growth, This might be dependent on the serum level of Insulin-like growth factor I(IGF-I), resulting in shortness. We measured serum levels of IGF-I and Insulin-like growth factor binding protein-3(IGFBP-3) in children with IUGR and normal short stature variants(NSSV) to observe whether they play a role in... |
Glanzmann's thrombasthenia is a rare autosomal recessive hemorrhagic disorder of platelet function with missing or abnormal platelet plasma membrane glycoprotein Ⅱb-Ⅲa, which functions as a receptor for fibrinogen. We have experienced a case of thrombasthenia in a 6-year-old female whose chief complaints were easy bruising, frequent epistaxis, arthralgia and swelling of the right ankle joint. Bleeding time was prolonged in... |
Mauriac's syndrome was described in the 1920s, as a triad of poorly controlled insulin dependent diabetes mellitus, profound growth retardation, and hepatomgaly. Following the wide availability of insulin and intensification of diabetic control, this entity has become quite rare. A 9-year-old female child was transferred to pediatric OPD of SNUCH because of hyperglycemia, short stature, and visual disturbance. Five years prior to admission, she... |
Purpose : In newborns from mothers with Graves' disease, neonatal transient hyperthyroidism or hypothyroidism may develop early in life. We evaluated the incidence and prognosis of neonatal thyroid dysfunction in neonates born to mothers with hyperthyroidism during pregnancy. Methods : We measured blood T4, T3, TSH levels and TSH-R-Ab titer in 48 hyperthyroid mothers and their babies between 1988 and 1994. Results :... |
Purpose : Cushing syndrome occurs rarely in children and adolescents. The clinical manifestation is variable and growth is usually adversely affected. Methods : We retrospectively analyzed 8 patients with Cushing syndrome between the ages of 1 and 14 year who were admitted to the pediatric department of Seoul National University Children's Hospital during the period from 1978 to 1995. Results : 1)... |