A Study on the Relationship Between Genotype and Phenotype in Korean Patients with Congenital Adrenogenital Syndrome Caused by 21-hydroxylase Deficiency / 대한내분비학회지

BACKGROUND: Congenital adrenal hyperplasia (CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. It appears that the frequency and the type of the responsible mutations differ according to the ethnic background and the type of mutation can predict the clinical outcomes such as salt losing type (SL), simple virilizing type (SV) and non-classic type (NC). METHODS: We have analyzed CYP21 genes in 55 Korean cases (110 chromosomes) of CAH by Southern blotting, PCR-dot hybridization and PCR amplification-created restriction site method. The patients include 43 cases of SL and 12 of SV. None of the NC was found. RESULTS: We found the mutations in 94% (103/110) of the examined chromosomes. A total of 10 types of mutations were discovered. The mutations include aberrant splicing of intron 2 (i2, 35%), CYP21 gene deletion (32%) and I172N (11%) in order. When the relationship between the clinical types and genotypes were correlated, most of the SL patients have either i2 (42%) or CYP21 gene deletion (41%), while SV patients have I172N (33%) or P30L (21%). The parents' mutation was investigated in 20 cases. In 4 families, one of the parents was not the obligatory heterozygote carrier i.e. did not have a mutation. The results suggest the high incidence of de novo mutation. CONCLUSION: We have identified the frequency of mutations of the CYP21 in Korean AGS patients. Our results shows that the clinical type of AGS can be predicted from the genotypes of CYP21. Also the high incidence of de novo mutation of CYP21 confirmed the genetic instability of major histocompatibility III region where the CYP21 is located.

Short Term Effect of Recombinant Human Growth Hormone Therapy in Children with Chronic Renal Failure

PURPOSE: Growth retardation is one of the major side effects of chronic renal failure. In this study, the short-term growth promoting effect, effect on the chemical parameters, and probable side effects of growth hormone treatment to child patients with chronic renal failure were examined. METHODS: The research sample was 5 child patients diagnosed with chronic renal failure and receiving growth hormone treatement for more than 6 months. Data were gathered on the height standard deviation scores, IGF-I, fasting blood sugar, general chemistry changes, and changes in blood pressure. Collected data was processed as the statistics by SAS (ver 6.12) program. RESULTS: After six months of growth hormone treatment, three of 5 subjects showed clinical increase in height SDS. The rest two, who were older than 10, also showed steady growth, but significant differences didn't appear in the process of statistical analysis (P=0.0625). All of those three done IGF-I has shown clinical increases, but significant differences didn't appear in the process of statistical analysis (P=0.1079). Presumably, it was because of the small number of the subjects and the short period of observation. One of the five patients showed increased blood pressure after the treatment. However, even after stopping the treatment, the blood pressure didn't return to the normal level. CONCLUSION: Growth hormone treatment to child patients with low height caused by chronic renal failure induced growth effect in the clinical setting without pernicious side-effects or significant changes in the biochemical tests.

Acute Renal Failure in Children: Underlying Disease and Management according to Age

PURPOSE: It has been stressed that age itself as well as multiple organ failure are important prognostic factors in acute renal failure (ARF) in children. This study was performed to find out the significance of age factor and underlying disease of ARF in children. METHODS: We tried to review 58 pediatric ARF cases, retrospectively, in the pediatric intensive care unit (excluding the neonatal and surgical intensive care unit cases) of the Samsung Seoul Hospital of Sung Kyun Kwan University from Sept., 1994. to Dec., 1996. RESULTS: We classified the enrolled 58 cases into 5 age groups and more than half were younger than 1 year old. As underlying causes, heart and gastrointestinal disease were predominant in less than 1 month of age group. After 1 year of age, intrinsic renal disease was the most common cause (43-50%). Among the renal disease, systemic lupus erythematosus (10-15 year group), hemolytic uremic syndrome (1-10 year group), and obstructive uropathy (less than 1 year age group) were common etiologies. The mortality was the highest (46.7%) in less than 1 year group and lowest (21.4%) in 10-15 year age group. CONCLUSION: The underlying disorders of ARF in children were different among the age group. Among intrinsic renal diseases, hemolytic uremic syndrome was the most common cause. The difference in the mortality was dependent on age and underlying disease.

A Case of Cerebral Infarction and Subdural Hemorrhage after Aseptic Meningitis

After aseptic or septic meningitis, some neurologic complications such as convulsions, delirium, rigidity, cerebral infarctions and cerebral hemorrhage can be developed. The cerebral infarction after meningitis is caused by arterial or venous occlusions. Involvement of small perforating arteries leads to ganglionic infarcts while severe sapsm of major vessels may lead to massive infarctions in the distribution of middle and/or anterior cerebral arteries. Cortical venous and/or dural thrombosis (especially in the superior sagittal sinus) produces typical features, including multiple areas of white matter hemorrhagic infarction. These neurologic complications are common in bacterial meningitis and very rare in aseptic meningitis. We experienced a case of cerebral infarction in MCA/ACA territory and subdural hemorrhage in occipital lobe after aseptic meningitis in 10 month-old-boy. We report a case with a brief review of related literature.

A case of Down syndrome associated with colonic atresia

The association of colonic atresia in patients with Down syndrome is a rare anomaly. The incidence of congenital atresia of the gastrointestinal tract has been estimated to be about one in 1500 births. Colonic atresia is rarer still, and is throut to comprise about 5% to 10% of this group. This intestinal atresia occurs in about 30% to 50% of patient with Down syndrome. We experienced a case of Down syndrome associated with colonic atresia in a 1 day old male. His initial chief complaints at the admission were severe abdominal distension and Down appearance. Diagnosis was confirmed by chromosomal study and operative laparotomy with end-to-end ileodescending colostomy. We report the case with brief review of related literatures.