46,XX male is a rare abnormality of sex determination with an incidence of 1 in 20,000 male neonates. The clinical manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules, with altered hormonal levels at puberty. Less frequently, some sexual ambiguities are found, always with sterility owing to reduced testicular development. The origin of male phenotype in 46,XX male could be the results of at least three different mechanisms:translocations of Y sequence, including the SRY gene, to an X chromosome or to an autosome(about 90% of cases); a mutation in a yet unknown X-linked or autosomal gene in the testis-determinating pathway, and cryptic Y chromosome mosacism. We experienced a case of SRY-positive 46,XX male in a 21-year-old man with small testes. (J Korean Soc Pediatr Endocrinol 2003;8:184-188)
Adolescent ; Azoospermia ; Genes, sry ; Gynecomastia ; Humans ; Hyalin ; Hypogonadism ; Incidence ; Infant, Newborn ; Infertility ; Male* ; Phenotype ; Puberty ; Seminiferous Tubules ; Testis ; X Chromosome ; Y Chromosome ; Young Adult

46,XX male is a rare abnormality of sex determination with an incidence of 1 in 20,000 male neonates. The clinical manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules, with altered hormonal levels at puberty. Less frequently, some sexual ambiguities are found, always with sterility owing to reduced testicular development. The origin of male phenotype in 46,XX male could be the results of at least three different mechanisms:translocations of Y sequence, including the SRY gene, to an X chromosome or to an autosome(about 90% of cases); a mutation in a yet unknown X-linked or autosomal gene in the testis-determinating pathway, and cryptic Y chromosome mosacism. We experienced a case of SRY-positive 46,XX male in a 21-year-old man with small testes. (J Korean Soc Pediatr Endocrinol 2003;8:184-188)
Adolescent ; Azoospermia ; Genes, sry ; Gynecomastia ; Humans ; Hyalin ; Hypogonadism ; Incidence ; Infant, Newborn ; Infertility ; Male* ; Phenotype ; Puberty ; Seminiferous Tubules ; Testis ; X Chromosome ; Y Chromosome ; Young Adult

PURPOSE: To characterize the MRI appearance of the peripherally located schwannoma as compared with pathologic findings. MATERIALS AND METHODS: 11 cases of 13 lesions of the schwannoma confirmed by pathology were analyzed, retrospectively. T11 T2 and Gadolinium-enhanced T1 weighted sagittal and axial images were obtained. The signal intensity, contour of lesion, and relationship with surrounding tissue were analyzed. All cases were correlated with MRI and pathologic findings. RESULTS: In 9 out of the 11 cases, schwannoma was connected to the main nerve trunk. Among them, tumors were located centrally in 6 cases and eccentrically in 3 cases. MR findings of schwannoma were iso signal intensity on T1WI(8 cases) with muscle intensity, high signal intensity on T2WI(all cases), strong heterogenous enhancement in all cases. 8 cases showing heterogenous appearance on T2WI, showed mixture of Antoni-A and B area and multifocal hemorrhage. Central low and peripheral high signal intensity on T2Wl(Target sign) was mainly high cellular component in the central portion and diffuse myxoid degeneration at the periphery, pathologically. Reversed target appea.rance(central high, peripheral low on T2WI) revealed central cystic degeneration with low cellular component and hemorrhage in the central portion, and high cellular component at the periphery. Linear band-like low signal intensity on T2WI, suggesting capsule of the schwannoma, was not the true capsule proven by pathology. Thin true capsule was not visualized on T2WI. CONCLUSION: MR appearance of schwannoma was non-specific. The signal intensity on T2 weighted MR imaging was determined by the presence of multifocal hemorrhage, focal cystic and myxoid degeneration, admixture of Antoni-A and B area.
Hemorrhage ; Magnetic Resonance Imaging* ; Neurilemmoma* ; Pathology ; Retrospective Studies

PURPOSE: To characterize the MRI appearance of the peripherally located schwannoma as compared with pathologic findings. MATERIALS AND METHODS: 11 cases of 13 lesions of the schwannoma confirmed by pathology were analyzed, retrospectively. T11 T2 and Gadolinium-enhanced T1 weighted sagittal and axial images were obtained. The signal intensity, contour of lesion, and relationship with surrounding tissue were analyzed. All cases were correlated with MRI and pathologic findings. RESULTS: In 9 out of the 11 cases, schwannoma was connected to the main nerve trunk. Among them, tumors were located centrally in 6 cases and eccentrically in 3 cases. MR findings of schwannoma were iso signal intensity on T1WI(8 cases) with muscle intensity, high signal intensity on T2WI(all cases), strong heterogenous enhancement in all cases. 8 cases showing heterogenous appearance on T2WI, showed mixture of Antoni-A and B area and multifocal hemorrhage. Central low and peripheral high signal intensity on T2Wl(Target sign) was mainly high cellular component in the central portion and diffuse myxoid degeneration at the periphery, pathologically. Reversed target appea.rance(central high, peripheral low on T2WI) revealed central cystic degeneration with low cellular component and hemorrhage in the central portion, and high cellular component at the periphery. Linear band-like low signal intensity on T2WI, suggesting capsule of the schwannoma, was not the true capsule proven by pathology. Thin true capsule was not visualized on T2WI. CONCLUSION: MR appearance of schwannoma was non-specific. The signal intensity on T2 weighted MR imaging was determined by the presence of multifocal hemorrhage, focal cystic and myxoid degeneration, admixture of Antoni-A and B area.
Hemorrhage ; Magnetic Resonance Imaging* ; Neurilemmoma* ; Pathology ; Retrospective Studies

It is now generally accepted that most, if not all, colon cancers originate within previously benign adenomas. Endoscopic polyp resection and regular follow up endoscopic examination are essential for prevention of carcinoma fro benign adenoma. However, small colorectal polyps are difficult to recognize during follow up endoscopic examinations because of the lack of reliable endoscopic landmarkers. Endoscopic Indiaink marking of the colon was first described by Ponsky and King in l975. The method has subsequently been advocated by expert as the best available means to mark the site of a colonic lesion. We prospectively studied the effectiveness of India ink as a long term colonic mucosal marker. Twelve patients who were diagnosed as colorectal polyp had a India ink marking with standard sclerotherapy needle. All patients who were followed at 6 months interval (mean duration 13 months) continue to display intensely stained mucosa at the original sites. No side effects or complications were encountered. India ink appears to be a safe and effective long term marker for colonic mucosal lesions.
Adenoma ; Colon* ; Colonic Neoplasms ; Follow-Up Studies ; Humans ; India* ; Ink* ; Mucous Membrane* ; Needles ; Polyps ; Prospective Studies ; Sclerotherapy

Tetrodotoxin (TTX) cause neurologic dysfunction by blocking the voltage-gated sodium channels located in all of the peripheral nerves and muscles. We experienced two patients presenting with generalized motor weakness after ingestion of pufferfish. The nerve conduction study showed diffuse slowing of motor and sensory nerve conduction velocity, prolonged motor terminal latency and decreased sensory nerve action potentials without temporal dispersion or conduction block. Abnormal findings of nerve conduction study improved rapidly without any deterioration. Clinical symptoms and signs ameliorated in accordance with findings of nerve conduction study without any neurologic sequelae. These imply that tetrodotoxication is reversible and functional neurologic disorder. We suggest that nerve conduction studies can be available in serial monitoring of tetrodotoxication as an objective means.
Action Potentials ; Eating ; Humans ; Muscles ; Nervous System Diseases ; Neural Conduction ; Neurologic Manifestations ; Peripheral Nerves* ; Tetraodontiformes ; Tetrodotoxin ; Voltage-Gated Sodium Channels

BACKGROUND & OBJECTIVES: Severe hemispheric infarction(SHI) reportedly has various range of high mortality. Recently it has been reported that more aggressive therapeutic intervention, such as decompressive hemicraniectomy or mild hypothermia might has potential benefits in the management of SHI. However, the mortality and the prognosis of Sill under the conservative treatment were rarely studied yet in Korea. METHODS: Sixty-six patients with CT proven SHI were subjected among 1649 acute stroke patients registered at the Hallym Stroke Data Bank since Jan. 1993. We analyzed the computerized databases for the mortality and compared inclusively demographic features, clinical characteristics, etiology, therapy modalities and CT findings of fatal group with those of survivors. RESULTS: Twenty-five patients were expired among 66 SI-il patients(mean age: 64.9+/-11.5, male to female ratio;37:29). The mean time to expire was 160.4 hours. The fatal group had a significantly higher incidence of cardioembolism. uncontrolled BP during the acute stage, and extensive infarction territory(MCA+ACA). Risk factors for ischemic stroke such as hypertension, hyperlipidemia. smoking, previous stroke history, diabetes mellitus. and old age were not related to mortality low densities and hyperdense MCA signs on brain imaging were not different between two groups. CONCLUSIONS: The early mortality rate of Sill under the conservative care was 38% in a referral hospital of Korea. intractable hypertension in the acute stage, cardioembolism and extent of infarct area may have predictable values of early mortality of SHI.
Diabetes Mellitus ; Female ; Humans ; Hyperlipidemias ; Hypertension ; Hypothermia ; Incidence ; Infarction ; Korea ; Male ; Mortality* ; Neuroimaging ; Prognosis ; Referral and Consultation ; Risk Factors ; Smoke ; Smoking ; Stroke ; Survivors

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 body weight(BW), body mass index(BMI), insulin-like growth factor-I(IGF-I) and insulin-like growth factor binding protein-3(IGFBP-3) levels in appropriate for gestational age(AGA) newborns. METHODS: Sixty healthy AGA newborns(31 males and 29 females, gestational age[GA] 34-42 weeks) were included in this study, whose BW and BMI were measured at delivery. Umbilical cord venous blood samples were withdrawn, and ghrelin and leptin were measured by radioimmunoassay. Cord blood IGF-I and IGFBP-3 were determined by immunoradiometric assay. RESULTS: The mean levels of ghrelin were inversely correlated with BW(r=-0.29, P<0.05) and GA (r=-0.28, P<0.05), but were not affected by gender. The mean levels of leptin levels showed positive correlation with BW(r=0.44, P<0.01), GA(r=0.36, P<0.01), and BMI(r=0.28, P<0.05). The leptin levels of females were higher than those of males. There was no gender difference in leptin levels in neonates under GA 37 weeks. However, the leptin levels of females were higher than those of males (P<0.01) in newborns with GA 37 weeks or over. There was no correlation between ghrelin and leptin levels. Ghrelin and leptin levels showed no relations to cord blood IGF-I and IGFBP-3 levels. CONCLUSION: These data suggest that cord blood ghrelin may have an inverse correlation with BW in AGA newborns, and leptin levels are positively correlated with BW and fat mass. Further study of ghrelin concentrations in cord blood is necessary to elucidate the physiological and pathological roles of ghrelin during the fetal and neonatal periods.
Adipocytes ; Adult ; Anthropometry* ; Female ; Fetal Blood* ; Gestational Age* ; Ghrelin* ; Growth Hormone ; Humans ; Immunoradiometric Assay ; Infant ; Infant, Newborn* ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Leptin* ; Male ; Pituitary Hormones ; Radioimmunoassay ; Umbilical Cord

BACKGROUND: Serum eosinophil cationic protein(ECP) level has been proposed as a indirect marker of eosinophilic inflammation of the airway in bronchial asthma. OBJECTIVE: To evaluate serum ECP against indirect clinical markers of disease, we compared bronchial obstruction, bronchial hyperresponsiveness and peripheral blood eosinophil counts, total IgE with serum ECP levels in patients with bronchial asthma and normal controls. METHOD: Fourty-two patients with bronchial asthma and twenty-six normal controls were enrolled. Measurement were made by spirometry, inhalation challenge with methacholine, peripheral blood eosinophil counts, total IgE and FEIA(fluoroenzymatic immunoassay) of serum ECP RESULT: Serum ECP levels were significantly higher in asthmatic patients than normal controls(p<0.0,5). Serum ECP levels were correlated with peripheral blood eosinophil counts(p<0.01, r=0.544) and bronchial hyperresponsiveness(PC,)(p<0.01, r=-0.456) in patients with bronchial asthma. Serum ECP levels were correlated with degree of bronchial obstruction(FEV, % to predicted value, FEV1/FVC%) in total subjects, but not in asthmatic patients. CONCLUSION: Serum ECP level may be used as indicator of disease activity in bronchial asthma and be helpful in differentiation between normal person and asthmatic patients on simple serological method. Further studies on the changes of serum ECP levels according to disease course and therapeutic responses are needed.
Asthma* ; Biomarkers ; Eosinophil Cationic Protein* ; Eosinophils ; Humans ; Immunoglobulin E ; Inflammation ; Inhalation ; Methacholine Chloride ; Spirometry

To evaluate the effectiveness of transesophageal echocardiography (TEE) for detecting potential intracardiac sources of cerebral emboli. We used both TEE and precordial conventional transthoracic echocardiogyrphy (TEE) in 27 patients with cerebral infarction. Group 1 had no clinical cardiac abnormality. And group 2 had cardiac abnormalities upon clinical examination. In group 1 (N= 18), TEE defined morphologic abnorrnalities in six patients (three with atrial appendage thrombus, two with patent foramen ovale, one with atrial septal aneurysm), whereas precordial echocardiography none. Although both echocardiogrpahic techniques revealed cardiac abnorrnalities in eight patients out of group 2 (N=9) only TEE could disclose left atrial appendage thrombus in six patients. We suggest that patients of cerebral infarction. Without demonstrable causes by conventiona studies including two-dimensional echocardiography. Should undergo TEE with the Valsalva maneuver.
Atrial Appendage ; Cerebral Infarction ; Echocardiography ; Echocardiography, Transesophageal* ; Foramen Ovale, Patent ; Humans ; Infarction* ; Intracranial Embolism ; Thrombosis ; Valsalva Maneuver