The use of recombinant DNA technology to produce human growth hormone has resulted in a marked increase in availability of Growth Hormone(GH) to treat short stature due to GH deficiency and other conditions, such as Turner syndrome, familial short stature, chronic renal insufficiency and intrauterine growth retardation (IUGR). But, the GH therapy may result in the adverse events such as sodium and water retention, pseudotumor cerebri, slipped capital femoral epiphysis, growth of nevi, recurrence of tumor. We experienced a case of severe hypertension associated with GH therapy in a 14-year-old male who presented high blood pressure up to 190/100 mmHg and normalized at 2-3 weeks after discontinuation of GH. Therefore, we think that the blood pressure should be carefully monitored during GH therapy.
Adolescent ; Blood Pressure ; DNA, Recombinant ; Fetal Growth Retardation ; Growth Hormone* ; Human Growth Hormone ; Humans ; Hypertension* ; Male ; Nevus ; Noonan Syndrome ; Pseudotumor Cerebri ; Recurrence ; Renal Insufficiency, Chronic ; Slipped Capital Femoral Epiphyses ; Sodium

In air leak syndrome, a significant portion of the volume delivered during a positive pressure breath can be lost through the leak. HFOV can achieve adequate ventilation at lower peak and/or mean intrapulmonary pressure than conventional mechanical ventilation (CMV) and has been an effective treatment of already established air leak syndrome. We report a 1-day-old male infant with severe respiratory failure from pneumothorax and pneumomediastinum, who was refractory to CMV with chest tube drainage. HFOV was applied to this patient for 114 hours, and improvement of oxygenation and ventilation as well as significant reduction of pneumothorax followed.
Chest Tubes ; Drainage ; Humans ; Infant ; Male ; Mediastinal Emphysema ; Oxygen ; Pneumothorax ; Respiration, Artificial ; Respiratory Insufficiency ; Ventilation*

PURPOSE:The pathogenesis of short stature in growth hormone(GH) deficiency is believed to be based on the growth failure of growth plate chondrocytes by reduced growth hormone dependent insulin-like growth factor- I (IGF- I ) level in serum. Therefore, author studied the growth promoting effect of IGF- I purified from human serum on the chondrocytes, cultured from rat rib cartilage. METHODS:Rat rib cartilage were treated with type II collagenase and hyaluronidase and were cultured in Ham's F-12 culture media containing 10% fetal calf serum. Growth promoting effect of IGF- I was measured by MTT dye by adding 20ng/ml IGF- I purified by protein-diol 120 column(YMC Co, Japan) from human serum, to 1*104 cultured chondrocytes separated into each of 96 well culture vessel. RESULTS: 1) When elution time of biotin labeled IGF- I by protein pak 300sw column was compared to elution time of standard molecular weight, IGF- I exists as large complex of 150Kd and small complex of 50Kd with free 7Kd form in serum before acid treatment. After acid treatment, IGF- I exists as small complex of 50Kd with free 7Kd form. 2) IGF- I purified from blood samples, as compared to genetic engineering product standard IGF- I , showed good parallelism in competition inhibition curve by purity analysis utilizing IGF- I antibody, and thus it is assumed that complex protein as inhibiting factor for purified IGF- I does not exist. Furthermore, complex protein was not present on the Western ligand method using biotin-labeled IGF- I ligand after purified IGF- I transferred to nitrocellulose paper following SDS-PAGE electrophoresis. 3)IGF- I of 20ng/ml showed 30% growth promoting effect, when rat rib chondrocyte culture with Dulbeco's modified Eagles medium(DMEM) is considered to show maximum growth promoting effect, while with pure culture medium, DMEM, showing minimum effect. CONCLUSIONS:The results of this study suggest that IGF- I purified by this method assumes the role of growth promoting effect on the chondrocytes, and that the described method of radioimmuno assay of IGF- I also could effectively remove inhibiting protein complex, therefore allowing more accurate assay.
Animals ; Biotin ; Cartilage ; Chondrocytes* ; Collagenases ; Collodion ; Culture Media ; Eagles ; Electrophoresis ; Electrophoresis, Polyacrylamide Gel ; Genetic Engineering ; Growth Hormone ; Growth Plate ; Humans* ; Hyaluronoglucosaminidase ; Molecular Weight ; Rats* ; Ribs* ; Staphylococcal Protein A

Neonatal Gaves disease is a relatively rare condition due to transplacental passage of Thyroid-stimulating antibody(TSAb) from a mother with active or inactive Graveses disease or autoimmune thyroiditis. A 11-day-old female newborn was referred to our department of pediatrics from a local clinic because of low level T4(3.55microg/dl) concurrent with high level TSH (501.74uIU/ml) on the 5th day neonatal metabolic screening. But, our repeated laboratory data showed very high serum T4(59.6microg/dl), T3(1,600ng/dl), suppressed TSH(0.43uIU/ml), and the presence of TSH receptor antibody. Her mother was treated with propylthiouracil(PTU) for Graves disease during pregnancy. Therefore, we thought it was a delayed-onset neonatal hyperthyroidism, because the fetal thyroid gland was initially suppressed by antithyroid drug taken during pregnancy. After initiating antithyroid drug therapy for the hyperthyroid nature, TSH levels became elevated again, while thyroid hormone levels decreased. Maternal and infant blood samples at the 23th day after birth were examined for serum autoantibodies directed towards the TSH receptor(Thyrotropin-binding inhibitory immunoglobulin:TBII, Thyroid-stimulating antibody:TSAb, Thyroid-stimulating blocking antibody:TSBAb) and high levels of TBII and TSAb were detected. About 2 months after birth, TBII and TSAb decreased within normal limit, and then we could stop antithyroid medication in safety. We report here a case of neonatal Graveses disease with very high level of T4 and T3, but firstly presented as hypothyroid nature on neonatal screening because of the maternally transferred antithyroid drug, PTU.
Autoantibodies ; Drug Therapy ; Female ; Graves Disease ; Humans ; Hyperthyroidism ; Infant ; Infant, Newborn ; Mass Screening ; Mothers ; Neonatal Screening ; Parturition ; Pediatrics ; Pregnancy ; Receptors, Thyrotropin ; Thyroid Gland ; Thyroiditis, Autoimmune

Gynecomastia is a proliferation of the glandular component of the male breast. Gynecomastia is the most common variant condition of the male breast and results from the effect of an altered estrogen-androgen balance on breast tissue or from the increased sensitivity of breast tissue to a normal estrogen level. We experienced a case of macrogynecomastia in a 16-year-old boy who had a normal male phenotype and was treated by reduction mammoplasty with breast tissue removal, which was effective and produced good cosmetic and psychologic results.
Adolescent ; Breast ; Estrogens ; Female ; Gynecomastia ; Humans ; Male ; Mammaplasty* ; Phenotype

PURPOSE: A low serum 25-hydroxyvitamin D [25(OH)D] level in the blood has been correlated with an increased risk of diabetes mellitus; however, the association between serum 25(OH)D level and insulin resistance has not been established in a Korean rural population. The aim of this study was to investigate the independent association between serum 25(OH)D level and insulin resistance in rural Korean adults. MATERIALS AND METHODS: This study used data from the Korean Genome Epidemiology Study-Kangwha Study. In the 2011 study, 1200 adults completed health examinations. In an ancillary study, serum 25(OH)D level was measured in a subsample (n=813). After excluding those taking vitamin D supplements, a cross-sectional analysis was carried out on 807 participants (324 men and 483 women) aged 40 to 89 years old. Measured from overnight fasting blood samples, glucose and insulin levels were used to calculate the homeostasis model assessment for insulin resistance (HOMA-IR). Measures of glucose, insulin, and HOMA-IR were log-transformed for parametric tests. RESULTS: Serum 25(OH)D level was inversely associated with HOMA-IR (beta=-0.003, p=0.039) in a univariate analysis. However, the association was not significant after adjustment for sex and age (beta=-0.002, p=0.123) or after adjustment for sex, age, body mass index, smoking status, alcohol intake, and regular exercise (beta=-0.003, p=0.247). CONCLUSION: Our findings suggest that vitamin D is not independently associated with insulin resistance in Korean men and women.
Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; Cross-Sectional Studies ; Female ; Humans ; Insulin Resistance/*physiology ; Male ; Middle Aged ; Rural Population ; Vitamin D/*analogs & derivatives/blood ; Vitamin D Deficiency/blood/epidemiology

OBJECTIVES: Serum uric acid levels have been reported to be associated with a variety of cardiovascular conditions. However, the direct association between uric acid levels and metabolic syndrome remains controversial. Thus, we evaluated the association of serum uric acid levels and metabolic syndrome in a community-based cohort study in Korea. METHODS: We performed cross-sectional analysis of baseline data of 889 males and 1491 females (aged 38 to 87) who participated in baseline examinations of the Korean Genome and Epidemiology Study: Kanghwa study. Blood samples were collected after at least an 8 hour fast. Uric acid quartiles were defined as follows: <4.8, 4.8-<5.6, 5.6-<6.5, > or =6.5 mg/dL in males; and <3.8, 3.8-<4.3, 4.3-<5.1, > or =5.1 mg/dL in females. Metabolic syndrome was defined by the National Cholesterol Education Program Adult Treatment Panel III Criteria with adjusted waist circumference cutoffs (90 cm for males; 80 cm for females). The association between serum uric acid quartiles and metabolic syndrome was assessed using multivariate logistic regression. RESULTS: The odds ratio for having metabolic syndrome in the highest versus lowest quartiles of serum uric acid levels was 2.67 (95% confidence interval [CI], 1.60 to 4.46) in males and 2.14 (95% CI, 1.50 to 3.05) in females after adjusting for age, smoking, alcohol intake, body mass index, total cholesterol, HbA1c, albumin, gamma-glutamyltransferase, blood urea nitrogen, and log C-reactive protein. The number of metabolic abnormalities also increased gradually with increasing serum uric acid levels (adjusted p for trend < 0.001 in both sexes). CONCLUSIONS: Higher serum uric acid levels are positively associated with the presence of metabolic syndrome in Korean males and females.
Adult ; Aged ; Aged, 80 and over ; Biological Markers/blood ; Cohort Studies ; Cross-Sectional Studies ; Female ; Humans ; Hyperuricemia/*blood ; Inflammation ; Logistic Models ; Male ; Metabolic Syndrome X/*blood ; Middle Aged ; Odds Ratio ; Prospective Studies ; Republic of Korea ; Risk Assessment ; Rural Health

Isolated ACTH deficiency is a rare cause of secondary adrenocortical insufficiency. The clinical presentation can be similar to that of primary adrenal insufficiency, but most of them may be nonspecific. A female patient of 25 months of age, complainig short stature, showed hypocortisolemia without ACTH & cortisol stimulation by insulin-induced hypoglycemia test. All the other hormone state was normal. Left hand AP view revealed delayed bone age(3 month) compared with chronological age. No radiologic abnormality was found in sella MRI and adrenal CT. Here we report a case of isolated ACTH deficiency presented by short stature.
Addison Disease ; Adrenocorticotropic Hormone ; Female ; Hand ; Humans ; Hydrocortisone ; Hypoglycemia ; Magnetic Resonance Imaging

Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected. Brain magnetic resonance imaging showed multifocal leukomalacia. Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY, dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2]]. FISH study showed the deletion of the 4p subtelomeric region with the intact 4q subtelomeric and WHS region. Both paternal and maternal karyotypes were normal. We compared the phenotypic variation with the previously reported cases of ring chromosome 4. The ring chromosome 4 with the subtelomeric deletion of short arm seems to be related with the phenotype of short stature.
*Chromosome Deletion ; *Chromosomes, Human, Pair 4 ; Growth Disorders/*diagnosis/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; *Ring Chromosomes ; Telomere

PURPOSE: We surveyed parental knowlege about febrile convulsion in order to reduce unnecessary use of diagnostic method and management, and to use as an educational guideline. METHODS: The survey composed of four items : etiology, diagnosis and treatment, prognosis, and method management at home. The rate of correct answers on the total questionnaire, and each questionnaires was compared to the febrile convulsion group (FCG) and control group (CG), to a group that had one episode of febrile convulsion and two and more episodes. The questionnaire about method management was compared to FCG and CG. RESULTS: Comparisons done on the general profiles between FCG and CG showed no singnificant difference statistically. The rate of correct answers on the total questionnaire is 30.6% in FCG and 21.2% in CG. The rate of correct answers on the total questionnaire is 29.0% in the group that had one episode of febrile convulsion, and 33.0% in two and more episodes. Comparing the method management between FCG and CG, cold massage and acupuncture were higher in FCG, statistically. CONCLUSION: The rate of correct answers showed no significant difference between FCG and CG, and was very low in both groups. There is also no difference in the rate of correct answers. Parental knowledge about proper management before they go to the hospital is insufficient. Therefore, we need to establish an educational program on febrile convulsion in order to reduce the use of unnecessary diagnostic method and inappropriate management.
Acupuncture ; Diagnosis ; Humans ; Massage ; Parents* ; Prognosis ; Surveys and Questionnaires ; Seizures, Febrile*