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: Thyroid disease is the most common endocrine disease in childhood. Thyroid hormone has critical effects on growth and development, especially in childhood. We survey the prevalence, sex and age distribution, symptoms and thyroid function states of thyroid diseases in childhood. METHODS: Three hundred ninety one children who were diagnosed as having thyroid disease at department of pediatrics, St. Mary's hospital from Jan. 1987 to Dec. 1998 enrolled in this study. RESULTS: 1) The ratio between male and female patients was 1: 5.3. Age distribution was puberty, school age and infancy in their order of frequency. 2) The results of thyroid function tests showed normal function in 210 cases (53.7%), increased function in 95 cases(24.3%), and decreased function in 86 cases (22%). 3) Simple goiter, Graves disease, and chronic lymphocytic thyroiditis were the most common diseases in euthyroid, hyperthyroid, and acquired hypothyroid state, respectively. 4) The most common sign and symptom was goiter in euthyroid(100%), hyperthyroid(98.8%) and acquired hypothyroid state(96.2%). Forty of 68 cases(58.8%) with congenital hypothyroidism were detected by neonatal screening. CONCLUSION: Simple goiter, chronic lymphocytic thyroiditis and Graves disease were common acquired thyroid diseases in childhood, and goiter is the most common clinical manifestation in acquired thyroid disease. Recently, increasing number of congenital hypothyroidism was detected by neonatal screening test.
Adolescent ; Age Distribution ; Child ; Congenital Hypothyroidism ; Endocrine System Diseases ; Female ; Goiter ; Graves Disease ; Growth and Development ; Hashimoto Disease ; Humans ; Infant, Newborn ; Male ; Neonatal Screening ; Pediatrics ; Prevalence ; Puberty ; Thyroid Diseases* ; Thyroid Function Tests ; Thyroid Gland*

Cellular blue nevus is an benign variant of blue nevus group, characterized by cellular islands composed of closely aggregated spindle cells with little or no melanin. The other variants include atypical and malignant blue nevus which often had the difficulties in the differential diagnosis from the malignant melanoma. A 4-year-old boy presented with hemispheric scalp nodule, which has been slowly grown since birth, measuring 3.5x3x1.5 cm. The surface showed geographic black pigmentation without hairs, hemorrhage, and ulceration. The excised mass disclosed homogeneoulsy dark black, glistening, and muddy cut surface. Histological examination revealed exuberant melanocytic proliferation with both spindle and dendritic components. Heavily pigment ed spindle cells, melanophages, focal necrosis, and vacuolated epithelioid cells were unusually noted in our case and diagnosed as cellular blue nevus. Electron microscopy disclosed largely mature melanosomes in tumor cells and melanophages. During about 16 months since operation, he has been relatively well with no evidence of disease.
Diagnosis, Differential

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: Nitrous oxide is a safe analgesics which has analgesic and sedative effects without loss of consciousness. The advantage of Nitrous oxide is that it has a rapid onset time and that we can modulate duration of its action. The purpose of this experiment is to obtain the safe and effective concentration of Nitrous oxide in Emergency Department as use of analgesics and sedative drugs. METHODS: Twenty volunteers were investigated according to double blind method. Nitrous oxide was administrated to volunteer subjects at different concentrations ; 33%, 50%, 67% each. Then we evaluated the Pain score, Blood pressure, Heart rate, Respiratory rate, Oxygen saturation and its side effects. RESULTS: Pain Score were 8.4+/-2.1 at 33%, 6.1+/-1.5 at 50%, and 3.65+/-2.2 at 67% of Nitrous oxide. Pain Score is decreased significantly following administration of Nitrous oxide at concentration of 50%, 67%(P<0.05). There was no difference between preadministration group and postadministration group. While no remarkable change in systolic blood pressure, heart rate, and oxygen saturation. Respiratory rate showed significant increase when 679o of Nitrous oxide was administrated. There was no side effect in administration of 33% of Nitrous oxide. When 50% of Nitrous oxide was administrated, there were dizziness 5(25%), paresthesia 2(10%), nausea 1(5%), palpitation 1(5%) and hyperethesia 1(5%). At 679o of Nitrous oxide, there were nausea 7(35%), dizziness 6(30%), paresthesia 5(25%), headache 5(25%), diplopia 2(10%), dysphoria 2(10%), salivation 1(5%), dyspnea 1(5%), nystagmus 1(5%), tinnitus 1(5%) and euphoria1 (5%). Incidence of side effect increased as the concentration of Nitrous oxide was increased. CONCLUSION: We can conclude that safe and effective concentration of Nitrous oxide is 50% as analgesics and sedative drugs in the emergency department.
Analgesics ; Blood Pressure ; Diplopia ; Dizziness ; Double-Blind Method ; Dyspnea ; Emergency Service, Hospital ; Headache ; Heart Rate ; Hemodynamics* ; Hypnotics and Sedatives ; Incidence ; Nausea ; Nitrous Oxide* ; Oxygen ; Paresthesia ; Respiratory Rate ; Salivation ; Tinnitus ; Unconsciousness ; Volunteers

BACKGROUND: Gastric cancer remains the main cause of cancer-related death in Korea. Accurate preoperative staging of gastric cancer is essential to predict prognosis and to plan optimal treatment. Although there are many reports dealing with the diagnostic values of conventional methods, controversies are still present especially in the field of preoperative staging. In this study, we evaluated the accuracy of gastroscopy and upper gastrointestinal series(UGI) for diagnosis of gastric cancer, and determined the usefulness of ultrasonography and computed tomography for preoperative staging. METHODS: One hundred twenty-three patients, who underwent operation from Aug. 1991 to Mar. 1995 under the diagnosis of gastric cancer were analyzed. We excluded 15 patients because their postoperative definitive stagings were undetemined. RESULTS: 1) Among 123 patients, the proportion of early gastric cancer was 26.0%(32/123) and that of the advanced gastric cancer was 74.0%(91/123). 2) The sensitivity of endoscopic diagnosis of gastric cancer was 96.7%(119/123), and the accuracy to determine the depth of invasion was 82.9% (102/123). 3) The sensitivity of UGI study for gastric cancer was 89.9%(98/109), and the accuracy to determine the depth of invasion was 61.5%(61/109). 4) The sensitivity of abdominal ultrasonography to detect the tumor was 11.3%(8/71), the accuracy to determine the T stage was 29.2%(28/96), and the sensitivity and specificity to detect lymph node metastasis was 13.6%(8/59), 100%(37/37), respectively. 5) The sensitivity of abdominal CT to detect the tumor was 74.3%(26/35), the accuracy to determine the T stage was 32.5%(13/40), and the sensitivity and specificity to detect lymph node metastasis were 34.5%(9/29), 72.7%(8/11), respectively. 6) The accuracy of preoperative staging was 45.5%(56/123). The 49.6%(62/123) of gastric cancer was downstaged, whereas only 4.1%(5/123) was overstaged. CONCLUSION: Our results show that high accuracy for diagnosis of gastrie cancer with the gastroscopy and UGI. However preoperative staging with ultrasonography and computed tomograpy was often underestimated, which could be concluded that the usefulness of the radiologic methods was limited.
Diagnosis* ; Gastroscopy ; Humans ; Korea ; Lymph Nodes ; Neoplasm Metastasis ; Prognosis ; Sensitivity and Specificity ; Stomach Neoplasms* ; Tomography, X-Ray Computed ; Ultrasonography

A 39-year-old hairdresser developed sodium bromate poisoning after drinking a cup of hair neutralizer in a suicide attempt. This is the first case of visual loss afteringestion of sodium bromate. Only few cases are as a cause of acute renal failure reported in medical literature. She presented 1 day later with anuria, required hemodialysis. Sensorineural hearing loss, often a characteristic finding, was developed.
Acute Kidney Injury* ; Adult ; Anuria ; Deafness* ; Drinking ; Hair ; Hearing Loss, Sensorineural ; Humans ; Poisoning* ; Renal Dialysis ; Sodium* ; Suicide

OBJECTIVE: Treatment of children with cerebral palsy needs much time and effort, so it is very hard for many patients to get hospital based treatment. To develop the home treatment program with the parents, we tried to elucidate the current difficulties to which therapists were facing during the treatment of cerebral palsies. METHOD: A cross-sectional study was performed to 250 physical therapists in 110 hospitals with a questionaire by mail. Sixty two universities and general hospitals, 37 rehabilitation centers and 31 community rehabilitation centers were involved in treatment for cerebral palsy, 51% of them are located in Seoul and Kyungi-do. RESULTS: 1) The current treatment time was 33.7 minutes, but most therapists replied that 45 minutes would be optimal. 2) Fifty four therapists (86.1%) had reviewed on introduction or basic course of the Bobath or Vojta program; the duration of the course ranged from 5 days to 1 to 2 months. 3) Fifty five cerebral palsy patients (66.7%) continued treatment for 1 to 2 years and 25% received treatment for more than 2 years. 4) Twenty nine patients (35%) received home therapy from trained parents, 75% of the cases noted significant improvement. CONCLUSION: Cerebral palsy treatment programs require more time than the actural duration of time given during therapy sessions. Thus, parent education for home therapy is considered to be an essential part of cerebral palsy management.
Cerebral Palsy* ; Child* ; Cross-Sectional Studies ; Education ; Hospitals, General ; Humans ; Korea* ; Paralysis ; Parents ; Physical Therapists ; Postal Service ; Rehabilitation Centers ; Seoul

BACKGROUND/AIMS: Laterally spreading tumors (LST) were growthed along the colonic wall. These tumors were high malignant potential compared to colon polyp. We analyzed clinicopathological characteristics of these tumors. METHODS: From June 1996 to June 2001, twenty nine patients were diagnosed by colonoscopy. These lesions were classificated macroscopic (granular type and nongranular type) and microscopic findings. RESULTS: 20 male and 9 female were enrolled (mean age, 68.1). Among the LST, 41.4% were 20~30 mm in diameter, and 7% were larger than 30 mm. According to macroscopic findings granular types were 72.4% (21/29) and nongranular types were 27.6% (8/29). In macroscopic findings, tubular types were 48.4% (14/29), malignant changes were 31.3% (9/29). Tumor size was only significant factor in malignant potential of LST (p=0.004). Endoscopic mucosal resection was performed in 72.4% (21/29), operation in 8 (27.6%). Rate of submucosal invasion in LST was 3.4% (1/29, sm1). Recurrent rate of endoscopic treatment group was 9.5% (2/21). CONCLUSIONS: Most of LST were good indication for endoscopic treatment, but larger tumor size and irregular surface of tumor were suspected to be submucosal invasion. Therefore these lesions were performed other procedures as endoscopic ultrasound or computerized tomography for invasion depth.
Colon ; Colonoscopy ; Female ; Humans ; Male ; Polyps ; Ultrasonography