No abstract available.
Molecular Biology* ; Transcription Factors*

No abstract available.

An A to G mutation at nucleotide 3243 or 8344 of the mitochondrial genome has been associated with insulin dependent diabetes mellitus(IDDM) and noninsulin dependent diabetes mellitus(NIDDM) in some patients whose family members are frequently affected in maternally inherited fashion. The hypothesis is entertained that defective oxidative phosphorylation system(OXPHOS) caused by mitochondrial DNA mutations would hamper the insulin secretion from pancreas beta islet cells, which requires large amount of ATP energy. Recently, a number of study have been reported to examine the frequecy of these mutations in diabetic populations. In this study, efforts have been directed to investigate the frequency of MELAS tRNALeu(3243) and MERRF tRNALys(8344) mutations in 53 Korean IDDM patients. Total genomic DNA extracted from patients' lymphocytes have been amplified using two sets of mitochondrial specific primers to cover the regions of nt 3243 or 8344. PCR-RFLP anlaysis using Apa I for MELAS(3243) or Ban II for MERRF(8344) were utilized to screen the presence of these mutations in 53 IDDM patients. Two positive controls have been directly sequenced to confirm the presence of these mutations. The results showed that none of IDDM patients(0/53) screened carried these mutations. In conclusion, mitochondrial DNA mutations of MELAS(3243) or MERRF(8344) may be very rare causative factor in developing IDDM, though a large number of IDDM patients are needed to be screened.
Adenosine Triphosphate ; Diabetes Mellitus, Type 1* ; DNA ; DNA, Mitochondrial* ; Genome, Mitochondrial ; Humans ; Insulin ; Islets of Langerhans ; Lymphocytes ; Mass Screening* ; MELAS Syndrome* ; MERRF Syndrome* ; Oxidative Phosphorylation ; Pancreas ; RNA, Transfer*

No abstract available.
Diabetes Mellitus* ; Insulin* ; Molecular Medicine*

No abstract available.
Hypoparathyroidism*

No abstract available.
Hydrocortisone* ; Plasma*

PURPOSE:Precocious puberty is the development of secondary sexual characteristics before the age of 8 years in girls and 9.5 years in boys. It is usually associated with premature, rapid skeletal maturation and closure of the epiphyseal plates, resulting in short stature compared with genetic height potential and can produce significant psychological distress for patients. We examined effects of treatment with long-acting gonadotropin-releasing hormone(GnRH) agonist on somatic and skeletal growth in patients with central precocious puberty(CPP). MATERIALS & METHODS:Two male and seven female patients were diagnosed as having central precocious puberty(CPP) on the basis of onset age of secondary sexual characteristics, bone age, results of GnRH stimulation test and levels of sex hormones. They were treated with Triptorelin or Leuprorelin acetate(80-100ug/kg, IM every 4 weeks) for 1 year. The patients have been analyzed in terms of changes in auxological parameters including height velocity(HV), HV SDS CA, height SDS CA, height SDS BA and predicted adult height(PAH) SDS before and 1 year after treatment with GnRH agonist. RESULTS:The growth velocity a year after treatment was decreased to 4.1+/-0.9 from 7.5+/-1.2cm/year(P<0.01) and the height velocity standard deviation score(SDS) for chronologic age decreased to -1.6+/-0.4 from 2.8+/-0.8(P<0.01). The height SDS for chronologic age was increased to 2.0+/-0.7 from 3.8+/-1.0 a year after treatment (P<0.01). However, no significant difference were observed in height SDS for bone age(-1.9+/-0.2 from -2.1+/-0.3)(p>0.05) and predicted adult height SDS(-2.2+/-0.5 from -2.3+/-0.4)(p>0.05) one year after treatment. CONCLUSION: We observed a remarkable growth deceleration a year after treatment with GnRH agonist in CPP patients. However, the results of this study shows no benefit of GnRH agonist treatment in improving predicted adult height. It is still not clear whether GnRH agonist treatment will eventually help the patients with CPP achieve a final adult height within the range of their genetic target height or not. Further extensive long-term study using strict selection criteria for GnRH agonist treatment is required to address this issue.
Adolescent ; Adult ; Age of Onset ; Deceleration ; Female ; Gonadal Steroid Hormones ; Gonadotropin-Releasing Hormone* ; Growth Plate ; Humans ; Leuprolide ; Male ; Patient Selection ; Puberty ; Puberty, Precocious* ; Triptorelin Pamoate

PURPOSE:Although Hashimoto's thyroiditis is the most common cause of goiter in children and adolescents, it is not clear what proportion of patients become hypothyroid and which tests are the best predictors of this state. To determine whether these kinds of variations occur in the course of Hashimoto's thyroiditis and whether the size of the thyroid gland or immunologic markers correlate with the course or outcome of Hashimoto's thyroiditis are main objects of our study. METHODS:A total number of 48 patients who were diagnosed as having Hashimoto's thyroiditis at the Department of Pediatrics, Asan Medical Center during the period of January, 1992 to December, 1997 were included in this study. Retrospectively, we reviewed medical records as to their clinical and labaratory data. RESULTS:Thyroid function status at initial diagnosis of Hashimoto's thyroiditis were euthyroidism(33.3%), compensatory hypothyroidism(33.3%), overt hypothyroidism (27.1%), hyperthyroidism(8.3%) in order. Positivity of antithyroglobulin antibodies and antimicrosomal antibodies were 77.1% and 66.7% respectively. In 33 patients, 12(36.4 %) were on remission status after 3 years from initial diagnosis. Antithyroglobulin antibody titer was significantly decreased after 2-year follow up in remission group. Initial antithyroglobulin antibody titer and thyroid function status were not related to remission status after 3-year from diagnosis. CONCLUSION: About 36% of patients with Hashimoto's thyroiditis can be in remission after 3-year from diagnosis. Decrease of antithyroglobulin antibody titer is related to remission status. Further study is necessary to know what can be the predicting factors for early remission, for example, initial thyroid function status, initial antithyroid antibody titier, circulating immune complex, age, sex and size of thyroid.
Adolescent ; Antibodies ; Antigen-Antibody Complex ; Biomarkers ; Child ; Chungcheongnam-do ; Diagnosis ; Follow-Up Studies ; Goiter ; Humans ; Hypothyroidism ; Medical Records ; Pediatrics ; Retrospective Studies ; Thyroid Gland* ; Thyroiditis*

PURPOSE: Most children who have been treated for craniopharyngioma eventually develop multiple pituitary hormone deficiencies as well as growth hormone deficiency(GHD). However, some of them may grow normally or even have accelerated growth velocity despite GHD postoperatively. This study was undertaken to evaluate several factors influencing change in growth velocity after surgery for craniopharyngioma in patients with GHD. METHODS: Fifteen patients operated on for craniopharyngioma had a pharmacological assessment of hypothalamic-pituitary function and at least two standard GH provocation tests. All patients had multiple pituitary hormone deficiencies including GHD after surgery. Patients were classified in two groups according to their growth rate during the first postoperative year. Group 1 consisted of 6 children with normal growth velocity or more than 2 standard deviation score(SDS) above the normal mean, and group 2 consisted of 9 children with decreased growth velocity more than 2 SDS below the normal mean. RESULTS: Height velocity was 8.3+/-.2 cm/year in group 1 and 2.8+/-.3 cm/year in group 2 during the first year. During the second year, height velocity was 4.4+/-.3 cm/year and 3.3+/-.4 cm/year, respectively. Body mass index(BMI) change between before and after surgery was 0.83+/-.4 kg/m2 in group 1 and 0.03+/-.3 kg/m2 in group 2 but there was no difference between both groups. However, BMI changes was correlated positively with height SDS change for 1 year following surgery in 15 patients(P<0.05, r=0.601). Prolactin levels before surgery were not significant difference between group 1 and group 2. However, there was a significant positive correlation between prolactin levels before surgery and height SDS change(P<0.01, r=0.671). Postoperative IGF-1 levels were low in all patients except one, who showed decreased growth rate. CONCLUSION: In this study, there were no significant differences in height velocity, BMI, prolactin, and IGF-1 levels between normal growth group and growth failure group after surgery. Further studies are needed to find out any other growth promoting factors related to growth without growth hormone.
Child* ; Craniopharyngioma* ; Growth Hormone* ; Humans ; Insulin ; Insulin-Like Growth Factor I ; Obesity ; Prolactin

Mental retardation (MR) is classically deficits in adaptive behavior and manifest during the developmental period. The causes of mental retardation were not understood in many cases. This study was undertaken to identify the etiologies of mentally retarded children enrolled in a special educational institution under the hypothesis that clarifying causes of MR can not only provide basic epidemiological data on MR in Korea, but also imply possibly preventable measures to avoid MR in some cases. In this study, complete medical history was taken in addition to a thorough individual physical examination with collection of urine specimens for metabolic screening tests including ferric chloride, DNPH, nitrosonaphthol, nitroprusside, CTAB, and reducing substance tests in 259 mentally retarded children aged between 3 through 18 year old. The cytogenetic, molecular genetic, and endocrine studies wire performed in 14 children with high clinical suspicion of chromosomal abnormalities and congenital hypothyroidism. Dysmorphism syndromes were delineated using computer software software program. Definite or presumptive etiological diagnosis has been made in 122 (47%) mentally retarded children, Among three major identifiable causes, perinatal brain damage resulted from difficulties in labor, prematurity, kernicterus, and neonatal sepsis, was most commonly found in 57 children (22%), followed by chromosomal abnormalities including Down's syndrome and fragile-X syndrome in 35 children (13.5%), and dysmorphism syndrome in 10 children (3.9%) in order. Other identifiable causes for mentally retarded children were listed as autism (2.3%), endocrine & hereditary metabolic disease (1.9%), central nervous system malformations, neurophakomatoses (1.9%), and postnatal accidents, poisoning, infection (1.5%). In conclusion, aforementioned data suggested that one fourth of MR can be avoided or treated by making efforts to improve peri, postnatal care and early detection. Routine urinary metabolic screening tests for inborn errors cannot be justified though CTAB test showed high specificity for the diagnosis of mucopolysaccharidosis. Some mentally retarded children's families need genetic counselling since Mendelian inherited disorders are culpable for causing MR in some children.
Adaptation, Psychological ; Adolescent ; Autistic Disorder ; Brain ; Central Nervous System ; Child* ; Chromosome Aberrations ; Classification* ; Congenital Hypothyroidism ; Cytogenetics ; Diagnosis ; Down Syndrome ; Humans ; Intellectual Disability ; Kernicterus ; Korea ; Mass Screening ; Mentally Disabled Persons* ; Metabolic Diseases ; Molecular Biology ; Mucopolysaccharidoses ; Nitroprusside ; Physical Examination ; Poisoning ; Postnatal Care ; Sensitivity and Specificity ; Sepsis