No abstract available.
Surveys and Questionnaires*

No abstract available.
Ovotesticular Disorders of Sex Development*

Prader-Willi(PW)syndrome is characterized by obesity, hypotonia, mental retardation, hypogonadism, short stature, excessive eating and characteristic facial appearance. Diabetes mellitus has been considered a component of PW syndrome. Recently this syndrome is caused by the absence of paternally derived genes normally located on chromosome segment 15 q11-q13 or may be the result of maternal uniparental disomy with the absence of paternally derived 15 q11-q13 region. The developement of probes containing segments of DNA from chromosome region 15 q11-q13 provides the oppotunity to confirm the diagnosis of PW syndrome by fluorescence in situ hybridization(FISH). We experienced a 15-year-old boy of PW syndrome with diabetes mellitus, who revealed mental retardation, hypogonadism, obesity and microdeletion of chromosome 15 q11-q13 comfirmed by FISH.
Adolescent ; Chromosomes, Human, Pair 15* ; Diabetes Mellitus ; Diagnosis ; DNA ; Eating ; Fluorescence ; Humans ; Hypogonadism ; Intellectual Disability ; Male ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome* ; Uniparental Disomy

PURPOSE: To investigate the serum levels of thyroglobulin in 35 Children with proven congenital hypothyroidism and the value of serum thyroglobulin (Tg) determination in the differential diagnosis of congenital hypothyroidism. METHODS: Thirty five patients diagnosed with congenital hypothyroidism by clinical symptoms, physical findings, thyroid function tests and radionuclide thyroid scan were available for study. The age of subjects was ranged between 2 weeks and 8.1 years. Serum thyroglobulin was measured by immunoradiometric assay (Thyroglobulin IRMA Pasteur kit). The control groups consisted of 10 normal children with similar age. RESULTS: 1) The male to female ratio was about 1 : 1.7. 2) In etiologic classification, thyroid dysgenesis was 29 cases (82.9%) and dyshormonogenesis was 6 cases (17.1%). Among the thyroid dysgenesis, athyreosis was 18 cases (51.5%), ectopic gland was 6 cases (17.1%), and hypoplastic gland was 5 cases (14.3%). 3) Serum thyroglobulin concentration of athyreosis (5.6+/-6.4ng/mL) was the lowest in children with congenital hypothyroidism, and serum thyroglobulin concentrations of both athyreosis and hypoplastic thyroid gland (11.6+/-6.5ng/mL) were significantly lower than the concentration of normal children (25.6+/-11.1ng/mL). 4) Serum thyroglobulin concentration in children with ectopic gland (22.7+/- 11.3ng/mL) and dyshormonogenesis (31.6+/-20.5ng/mL) was same as the concentration of normal children. CONCLUSIONS: Serum thyroglobulin measurement may be useful in the differetial diagnosis of athyreosis from other etiologies of congenital hypothyroidism.
Child ; Classification ; Congenital Hypothyroidism* ; Diagnosis ; Diagnosis, Differential ; Female ; Humans ; Immunoradiometric Assay ; Male ; Thyroglobulin* ; Thyroid Dysgenesis ; Thyroid Function Tests ; Thyroid Gland

PURPOSE: To investigate the serum levels of thyroglobulin in 35 Children with proven congenital hypothyroidism and the value of serum thyroglobulin (Tg) determination in the differential diagnosis of congenital hypothyroidism. METHODS: Thirty five patients diagnosed with congenital hypothyroidism by clinical symptoms, physical findings, thyroid function tests and radionuclide thyroid scan were available for study. The age of subjects was ranged between 2 weeks and 8.1 years. Serum thyroglobulin was measured by immunoradiometric assay (Thyroglobulin IRMA Pasteur kit). The control groups consisted of 10 normal children with similar age. RESULTS: 1) The male to female ratio was about 1 : 1.7. 2) In etiologic classification, thyroid dysgenesis was 29 cases (82.9%) and dyshormonogenesis was 6 cases (17.1%). Among the thyroid dysgenesis, athyreosis was 18 cases (51.5%), ectopic gland was 6 cases (17.1%), and hypoplastic gland was 5 cases (14.3%). 3) Serum thyroglobulin concentration of athyreosis (5.6+/-6.4ng/mL) was the lowest in children with congenital hypothyroidism, and serum thyroglobulin concentrations of both athyreosis and hypoplastic thyroid gland (11.6+/-6.5ng/mL) were significantly lower than the concentration of normal children (25.6+/-11.1ng/mL). 4) Serum thyroglobulin concentration in children with ectopic gland (22.7+/- 11.3ng/mL) and dyshormonogenesis (31.6+/-20.5ng/mL) was same as the concentration of normal children. CONCLUSIONS: Serum thyroglobulin measurement may be useful in the differetial diagnosis of athyreosis from other etiologies of congenital hypothyroidism.
Child ; Classification ; Congenital Hypothyroidism* ; Diagnosis ; Diagnosis, Differential ; Female ; Humans ; Immunoradiometric Assay ; Male ; Thyroglobulin* ; Thyroid Dysgenesis ; Thyroid Function Tests ; Thyroid Gland

No abstract available.
Child* ; Humans ; Tuberculosis, Renal*

No abstract available.
Pheochromocytoma*

Thyroglossal duct cysts result from failure to obliterate the embryonic throglossal duct. When these cysts drain through the skin, they produce thyroglossal duct fistulas, which re often infected. We report two cases of thyroglossal duct fistula in an 8-year-old boaid a 41-year-old man who had a infected cystic mass and sirius on the anterior midline neck, respeticely. The cyst which is lined by a columnar epithelium was identified microscopically in a surgically n se ted specimen.
Adult ; Child ; Epithelium ; Fistula* ; Humans ; Neck ; Skin ; Thyroglossal Cyst

Recently, methionyl-hGH was produced in the E. coil K-12, W3110 by recombinant DNA technology in Korea. In this paper, the clinical efficacy and immunogenicity of this GH were studied in 43 patients with growth hormone deficency.The subjects of this study were aged 4.3-18.5 years and each patient received GH 0.5-0.71U/kg week subcutaneously, 6-7 times a week for 1 year. During treatment, height, body weight and bone age were checked. Blood count, urinalysis, blood chemistry and thyroid hormonal concentrations were checked before and every 3 months. The measurement of IGF-1 was performed and assay of antibody against hGH was performed before and every 6 months.The height velocities significantly increased from 3.7+-3.0 cm/year to 11.0+-4.2 cm/year and 9.9+-3.2 cm/year at 6 and 12 months after GH therapy, respectively. The Height SDS were significantly improved after GH therapy with increasing ratio of bone age to chronological age from 0.60+-0.19 at pretreatment to 0.68+-0.16 at 6 month, 0.69+-0.16 at 12 month of therapy. The plasma IGF-1 levels significantly increased during treatment. Three out of 35 patients(8.3%) showed antibody against hGH after 1 year of treatment. Thoughout study, we could not observe any remarkable side effect with GH treatment.These results indicate that this E. coli derived methionyl recombinant growth hormone is effective in improving the index of linear growth in the children with growth hormone deficiency without significant side effect.
Body Height ; Chemistry ; Child ; DNA, Recombinant ; Growth Hormone ; Human Growth Hormone ; Humans ; Insulin-Like Growth Factor I ; Korea ; Plasma ; Thyroid Gland ; Treatment Outcome ; Urinalysis

No abstract available.
Bone Marrow* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma*