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.

Congenital Urinary Tract Anomalies Associated with Urinary Tract Infection in Infants and Children

We report 4 cases of malignant thymoma which were composed of 2 cases of invasive thymoma and 2 cases of thymic carcinoma. The cytologic findings of invasive thymoma were similar to those of benign thymoma. The distinctive cytologic features of thymic carcinoma were necrotic background, irregular clusters and individually scattered arrangement of anaplastic epithelial cells, and some scattered mature small lymphocytes. These findings may be found in the Hodgkin's lymphoma, seminoma, and metastatic squamous cell carcinoma, undifferentiated carcinoma, and large cell carcinoma of the lung. But, the feature of irregular clustering of anaplastic epithelial cell having scanty cytoplasm was different from Hodgkin's lymphoma and seminoma. Clinical and radiologic findings as well as cytologic finding were helpful in differential diagnosis of thymic carcinoma from metastatic carcinoma.

Hemolytic-Uremic Syndrome Associated with Bloody Diarrhea

The authors analysed 2,653 cases of transthoracic fine needle aspiration cytology of the lung to evaluate the diagnostic accuracy and its limitation. A comparison was made between the original cytologic and the final histologic diagnoses on 1,149 cases from 1,074 patients. A diagnosis of malignancy was established in 38.3% benign in 48.1%, atypical lesion in 2.3%, and inadequate one in 11.9% of the cases. Statistical data on cytologic diagnoses were as follows; specificity 98.9%: sensitivity of procedure, 76.8%: sensitivity of diagnosis, 95.5%: false positive 5 cases: false negative 18 cases: predictive value for malignancy, 98.8%: predictive value for benign lesion, 79.5%: overall diagnostic efficiency, 87.5%: typing accuracy in malignant tumor, 80%.