- Turner Syndrome.
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Duk Hee Kim
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J Korean Endocr Soc. 2003;18(6):552-560. Published online December 1, 2003
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 Abstract
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- No abstract available.
- A Study on the Relationship Between Genotype and Phenotype in Korean Patients with Congenital Adrenogenital Syndrome Caused by 21-hydroxylase Deficiency.
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Dong Kyu Jin, Jung Sim Kim, Seung Mi Song, Sung Joon Park, He Zin Hwang, Hwa Young On, Phil Soo Oh, Si Whan Koh, Mee Ryung Uhm, Dong Hwan Lee, Jah Hoon Shin, Heon Seok Han, Hong Sik Kim, Cheol Woo Ko, Han Wook Yoo, Jin Sung Lee, Duk Hee Kim
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J Korean Endocr Soc. 2000;15(2):237-247. Published online January 1, 2001
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- 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.
- Clinical Effects of E. cole Derived Authentic REcombinant Human Growth Hormone(DA-3002) in Children with Growth Hormone Deficiency.
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Se Won Yang, Byung Chul Lee, Chul Woo Ko, Duk Hee Kim, Han Wook Yoo, Woo Young Chung
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J Korean Endocr Soc. 1998;13(4):526-535. Published online January 1, 2001
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- BACKGROUND
Recently authentic human growth hormone(hGH) has produced in the E coli K-12, W3110 by recombinant DNA tecbnology in Korea In this paper, the clinical efficacy and immunogenicity of this GH was shdied in 38 children with growth hormone deficiency during therapy of 1 year. METHODS: The subjects of this study were aged 4.9-13.9 years, diagnosed by failure of plasma GH to respond to insulin-induced hypoglycemia, arginine and/or L-dopa loading and height below -2 standard deviation of mean for their chronological age. Each patient received GH 0.5-0.7IU/kg/week subcutaneously in 6-7 divided doses. During treatment, vital signs, height, body weight and bone age were checked every 3 months. Complete blood count, urinalysis, blood chemistry and thyroid hormone were checked before and every 6 months. The measurement of serum IGF-1 level and antibody against hGH were performed before and every 6 months during therapy of I year. RESULT: The height velocities significantly increased from 3.3 +/- 1.5cm/year to 10.1 +/- 2.5 and 9.0 +/- 1.8cm/year at 6 and 12 months of therapy, respectively. The height standard deviation score for chronological age were significantly improved from -2.141.50 to -1.74 +/- 1.43 and -1.54 +/- 1.38 at 6 and 12 months of therapy with increasing ratio of bone age to chronological age from 0.72 +/- 0.15 at pretreatment to 0.76 +/- 0.15 at 6 month, 0.79 +/- 0.16 at 12 month of therapy. The plasma IGF-1 level significantly increased during treatment. One of 36 patients(2.8%) showed positive antibody against hGH after 1 year of treatment. During therapy of 1 year, unwanted and remarkable clinical side effect were not observed in all subjects. CONCLUSION: These results indicate that this E. coli derived authentic recombinant growth hormone is very effective in stimulating linear growth in children with growth hormone deficiency.
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