No abstract available.
Molecular Biology* ; Transcription Factors*

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.

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

No abstract available.
Plasma* ; Reye Syndrome*

Purpose : As the recombinant human growth hormone has been widely available, a lots of parents having short statured children are interested in promoting growth of them whatever the etiologies of short stature they have. However, the growth hormone therapy for growth-promoting effect is only justified in well-established indications such as growth hormone deficiency, fumer syndrome, and chronic renal insufficiency. This study was undertaken to classify the children with chief complaint of short stature by its cause and giving the basic epidemiologic data for it so that the size of population in which growth hormone is indicated can be estimated. Methods : According to Ranke's etiologic classification, we categorized the 579 children who visited our pediatric endocrinology clinic with chief complaint of short stature during the period of March 1994 to August 1996. In this prospective study, history regarding growth was taken, physical examination and laboratory tests including bone age, thyroid function, blood chemistry were carried out. The auxological data were analyzed. Additional chromosomal study or growth hormone provocative tests were performed when needed. Results : Out of 579 patients, 360(62.2%) were classified as normal and 127(21.9%) were classified as normal variants which consist of familial [74(12.8%)], constitutional [48(8.5%)], and mixed familial & constitutional short stature[5(0.9%)]. Pathologic short stature was found in only 80(13.8%). Those are growth hormone deficiency(28), Tumer syndrome(16), intrauterine growth retardation(14) in order. Other etiologies list varieties of dysmorphism, skeletal dysplasia, chromosomal disorders. Conclusions : This results suggest the vast majority of children with chief complaint of short stature are normal or normal variants. Only 7.8% of children who visited our clinic were indicated for growth hormone therapy.
Chemistry ; Child* ; Chromosome Disorders ; Classification* ; Endocrinology ; Growth Hormone ; Human Growth Hormone ; Humans ; Parents ; Physical Examination ; Prospective Studies ; Renal Insufficiency, Chronic ; Thyroid Gland

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