Purpose : The gonadotropin-releasing hormone (GnRH) test results of girls with precocious puberty were analyzed to determine whether this test can efficiently and clearly differentiate between central precocious puberty (CPP) and other disorders. Methods : Clinical and laboratory data of 54 girls with precocious pubertal signs were reviewed. Intravenous GnRH test was performed with blood samples obtained at 0, 30,... |
Purpose : Ghrelin, being secreted from the stomach, stimulates growth hormone secretion and controls energy homeostasis by increasing appetite. Leptin, being secreted from the adipocytes, controls weight and energy homeostasis by decreasing appetite. Leptin concentration is reported to increase after childhood cancer therapy. This study was aimed to compare ghrelin and leptin concentrations in normal children and children who received... |
As a result of the widespread use and enhanced quality of high-resolution radiological techniques, a recent report has revealed a relatively high prevalence of small adrenal tumors in patients with untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. However, there are scarcely any pediatric cases of adrenocortical tumor following long-term treatment in patients suffering with congenital adrenal hyperplasia. We report... |
Purpose : Ghrelin stimulates the secretion of growth hormone and other pituitary hormones, and has orexigenic effects. It may have a physiologic role in fetal and neonatal growth. Leptin secreted by the adipocytes reflects fat mass in infants as well as adults. The aim of this study was to evaluate the relation of cord blood ghrelin and leptin levels to... |
Purpose : Recently, it was reported that tumor necrosis factor(TNF) and lymphotoxin-α(LT-α) gene regions might be a susceptible loci to type 1 diabetes in Japanese. The purpose of this study was to investigate the association of TNF and LT-α gene polymorphisms with disease susceptibility in Korean children with type 1 diabetes. Methods : Forty-nine Korean children with type 1 diabetes(29... |
Cystinosis, an autosomal recessively inherited lysosomal storage disease, results from impaired transport of the amino acid cystine out of cellular lysosomes. The consequent accumulation and crystallization of cystine destroys tissues, causing growth retardation, Fanconi syndrome, renal failure, eye problems, and endocrinopathies. The gene for cystinosis, CTNS, was mapped to chromosome 17p13. The diagnosis of cystinosis was made by measuring the... |
Purpose : The aim of this study was to determine whether differences exist in the presentation, clinical course, and outcome of Graves' disease between prepubertal children and adolescents. Methods : A retrospective chart review of 14 prepubertal(PREPUB, 7.2?.9 yr) and 38 pubertal (PUB, 12.4?.5 yr) children with Graves' disease between January 1989 and November 1995 at St. Mary's Hospital and Kangnam... |
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... |
A ring 18 chromosome(18r) karyotype is a rare disorder characterized by short stature, obesity, microcephaly, mental retardation, micropenis, cryptorchidism, hypertelorism, epicanthal folds, micrognathia, and small hands with short tapering fingers. A 22-month-old girl was referred to our department of pediatrics because of ptosis and delayed development. Karyotype revealed ring 18 and dicentric ring 18 chromosome(46,XX,r(18)[45]/45,XX,-18[7]/46,XX,dic r(18)[3]). Fluorescent in situ hybridization... |
Purpose : Improved adult height is a major goal in the treatment of children with short stature due to GH deficiency(GHD). The purpose of this study was to evaluate final height in idiopathic GH deficient children after long-term GH treatment Methods : GHD was diagnosed in 9 male patients by at least two stimulation tests(maximum GH level≤5ng/ml). Other pituitary functions were... |
Purpose : The purpose of this study was to correlate birth weight, skinfold thickness, gestational age, BMI and ponderal index of neonates and maternal status with cord serum leptin concentration. Methods : Sixty newborns were enrolled in this study. Standard growth curves were used to categorize infants as appropriate(AGA), large(LGA), or small for gestational age(SGA). Gestational age, birth weight, length, skinfold... |
Purpose : The identification of the ob gene and its adipocyte-specific protein leptin has provided the first physiologic links to the regulatory system controlling body weight. In adults, elevations of serum leptin concentrations correlated closely with the percentage of body fat. This study investigated whether leptin concentrations were elevated in obese children, and the relationship between leptin concentrations and gender and pubertal stage. Methods :... |
Purpose : The aim of this study was to evaluate the long-term growth response to growth hormone therapy in 18 children with naive growth hormone deficiency. Methods : The subjects of this study were aged 3-13.5 years and each patient continuously received GH(EutropinⓇ) 0.45-0.7IU/kg/week, intramuscularly or subcutaneously in 3-7 divided dose for up to 7 years. Standard auxologic assessment was carried... |
Purpose : This study was carried out to evaluate the age and sex distribution, clinical manifestation, presence of the antithyroid antibody, the clinical outcome following antithyroid drug treatment in children with Graves' disease. Methods : A total 45 children with Graves' disease were entered into the study. Diagnosis was based on clinical manifestation, elevated thyroid function and increased homogeneous 99mTc thyroid... |
Purpose : Several studies recently have emphasized the value of sonography as an new therapeutic method for hydrostatic reduction of intussusception by using a saline enema under ultrasound guidance. The purpose of this study was to asses the diagnostic screening efficacy of sonography in suspected childhood intussusception and the value of ultrasound guidance in hydrostatic reduction performed with saline enema. Methods... |
Congenital adrenal hyperplasia in caused by a defect in the biosynthesis of cortisol as a result of deviciency in one of the essential enzymes, most commonly 21-hydroxylase and is an autosomal recessive disease in close genetic linkage with HLA. The common clinical manifestations of congenital adrenal hyperplasia is progressive virilization in both sexes, abnormal external genitalia in the... |
Pseudohypoaldosteronism (PHA) is rare herediary salt wasting syndrome due to peripheral resistance to aldostrone. PHA type I, subdivided into isolated renal insensitivity to aldosterone of autosomal dominant inheritance and multiple target organ defect of autosomal recessive inheritance, and PHA type II show similar clinical manifestations except hypertension which is limited to type II. PHA type I is charaterized by hyponatremia, hyperkalemia,... |
Distal renal tubular acidosis (RTA) is a biochemical syndrome as a dificiency of hydrogen ion secretion by the distal tubule and collecting duct. Owing to the nature of the defect, hyperchloremic non-anion gap metabolic acidosis and high urine pH despite severe systemic acidosis is characterized. Typical manifestations of distal RTA are growth retardation, rickets, polyuria and nephrocalcinosis. We experienced a case of... |
Bile peritonitis due to spontaneous perforation of choledochal cyst is a rare disease and the etiology of spontaneous perforation is unknown in most of infant cases. Recently, we experienced a case of bile peritonitis caused by spontaneous perforation of choledochal cyst in a 6 month-old female infant. She had progressive abdominal distention with ascites, mild jaundice and intermittent passage of acholic... |
This is a case report of virilizing adrenal cortical adenoma in 22 month old male patient who was diagnosed by clinical features, endocrinological studies, radiologic studies and pathologic findings. During surgery, a 40gm well-encapsulated tumor was removed from the right adrenal gland. Histologic examination revealed no capsulr invasion and a diagnosis of adrenocortical adenoma was made. He is in well condition... |
Hemimegalencephaly is a rare brain malformation characterized by congenital hypertrophy of one cerebral hemisphere with ipsilateral increased volume of the white matter and dilatation of the lateral ventricle. We have experienced two cases of hemimegalencephaly in neonates who were admitted because of repetitive seizure. One case was simple hemimegalencephaly and the other case was combined by corpus callosum agenesis. Diagnosis was... |
In Kawasaki disease, coronary arterial involvement is an important prognostic factor. Many studies have reported about risk factors of coronary artery disease in Kawasaki disease. This study was designed to evaluate factors influencing coronary arterial involvement and to evaluate the effect of intravenous gammaglobulin (IVG) when admitted on the widely used criteria in Korea. Fiftyfour patients meeting the CDC criteria... |
A Unilateral Absence of Pulmonary Artery(UAPA), which develops occasionally as one of the associated anomaly in congenital cardiovascular defect like as tetralogy of Fallot, is rare anomaly as an isolated congenital defect. We have recently experienced a case of UAPA in a 9 years old boy, which was diagnosed by perfusion scan, digital subtraction angiography. So we report this case... |
We experienced a case of Mckusick-Kaufman syndrome in a 14 day-old female neonate. She had hydrometrocolpos with vaginal atresia and polydactyly of feet associated with bilateral hydronephrosis and umbilical hernia. Hydronetrocolpos with vaginal atresia was corrected by abdominoperineal-vaginal pull through operation on 21st day of life. A brief review of related literatures was made. |
Acute disseminated encephalomyelitis is an uncommon immune mediated inflammatory disorder of the central nervous system. It may be defined as a monophasic encephalitis or myelitis of abrupt onset characterized by symptoms and signs indicative of damage chiefly of the white matter of the brain or spinal cord. The process may be severe and even fatal or mild and evanescent. The... |
We experienced a case of cloacal deformity. This one day-old female neonate had hydrometrocolpos with vaginal atresia, imperforated anus, cloaca associated with hemivertebrae, left renal agenesis and right hydronephrosis. A brief review of related literature was made. |
The congenital hepatic fibrosis is a rare condition defined pathologically by the presence within the line of bands of fibrous tissue which after contain linear or circular spaces lined by bile duct cells, It is commonly associated with intrahepatic portal hypertension but hepatocellular function is almost always preserved. The prinicipal clinical features of this disease are abdominal distension, firm hepatomegaly,... |
Subacute necrotizing encephalomyelopathy or Leigh's disease is a familial neurodegenerative disorder characterized by focal bilateral and usually symmetric lesions of both gray and white matter in the brain and the spinal cord. The lesions are strikingly similar to those of thiamine deficiency encephalopathy. The diagnosis of subacute necrotizing encephalomyelopathy was usually made by typical clinical manifestation and typical bran CT... |
The parmacokinetics and biological effects of an recombinant methionyl growth hormone(LBD-003) produced by the expression of genomic hGH in a yeast cell line, were studied in growth hormone deficient children. Twelve patients were randomly assigned to two age-matched subcutaneous and intramuscular groups. Each group consists of 6 patients. Each subject received an dosage of 0.1 U hGH(LBD-003)/kg, BW, Blood was drawn before... |