No abstract available.
Hypoparathyroidism*

No abstract available.
Molecular Biology* ; Transcription Factors*

No abstract available.

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

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.
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:Craniopharyngioma is one of the most important intracranial tumors in pediatric age which causes multiple pituitary hormone deficiencies. We have studied clinical characteristics in patients with craniopharyngioma, focusing on changes of endocrine function, change of growth pattern, and change of body mass index before and after surgery. In addition, we wanted to know the effect of growth hormone therapy on growth velocity and body mass index, and to identify contributing factors for spontaneous growth in spite of growth hormone deficiency. METHODS:A total number of 17 patients who were diagnosed as having craniopharyngioma at the Department of Pediatrics, Asan Medical Center during the period of January, 1991 to December, 1997 were included in this study. Retrospectively, we reviwed medical records as to their endocrine function tests and auxoloogical data before, after surgery. RESULTS: 1)The number of patients of male and female were 9 and 8 respectively. Mean age was 7.3+/-4.3 years. 2)Preoperatively, 3 patients were thyroid hormone deficient, 3 patients were corticosteroid deficient, and 3 patients suffered from diabetes inspidus. 3)Postoperatively, GH and TSH deficiency were found in 100%, ACTH in 88.2%, ADH in 82.3%, and LH/FSH in 60%, 53% respectively. 4) Mean growth velocity in 14 GH deficient patients without growth hormone treatment for 2 years were 3.5+/-2.4cm/year during the 1st year and 3.1+/-1.7cm/year during the 2nd year. Although height standard deviation score(Ht. SDS) was decreasing trend as -0.24+/-2.19 at diagnosis, -0.94+/-1.73 at 1 year later, and -0.76+/-1.76 at 2 years later, it was not statistically significant. To our suprise, 4 out of 14 patients achieved greater growth velocity than nomal in spite of growth hormone deficiency during the 1st year after operation. 5) Although the mean body mass index of 14 GH deficient patients without GH treatment was increasing trend as 17.9+/-3.5 at diagnosis, 19.0+/-4.5 at 1 year later, and 19.9+/-4.8 at 2 year later, it was not statistically significant. 6) The mean Ht. SDS increased significantly in 7 patients treated with growth hormone(P<0.05) for 2 years, but change of body mass index was not significant. 7) Comparision of postoperative serum prolactin levels and changes of body mass index between spontaneous growth and stunted growth group did not reveal significant difference. CONCLUSION: Since most patients with craniopharyngioma become multiple pituitary hormone deficient after operation, it is important to predict and detect pituitary dysfunction to manage it effectively. Although patients with postoperative GH deficiency responded well to GH treatment, further study is needed to clarify what are the main contributing or prognostic factors for spontaneous growth without growth hormone treatment.
Adrenocorticotropic Hormone ; Body Mass Index ; Chungcheongnam-do ; Craniopharyngioma* ; Diagnosis ; Female ; Growth Hormone ; Humans ; Male ; Medical Records ; Obesity ; Pediatrics ; Prolactin ; Retrospective Studies ; Thyroid Gland

No abstract available.
Plasma* ; Reye Syndrome*

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