- Vitamin D Receptor Gene Polymorphisms and Bone Mineral Density in Korean Women.
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Jae Hong Park, Dong Jin Chung, Jung MIn Kim, Ji Yeon Kim, Myung Soo Kim, Seung Won Yang, Min Young Chung, Tae Hee Lee, Jong Tae Park, Min Young Lee, Jae Hyuk Lee, Chan Choi
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J Korean Endocr Soc. 1998;13(3):394-409. Published online January 1, 2001
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- BACKGROUND
Bone mineral density(BMD) is thought to be under genetic control. Polymorphisms at the vitamin D receptor(VDR) gene have recently been shown to contribute to the genetic variability in bone mineral density in Caucasians. However, the relationship between VDR-RFLP(restriction fragment length polymorphisms) and bone mineral density is controversial. METHODS: The VDR-RFLP by BsmI, ApaI, and TaqI were studied in 250(77 premenopausal, 173 postmenopausal) Korean women. Bone mineral densities at the lumbar spine(L2-L4), femoral neck, greater trochanter, and Wards triangle were measured by DEXA(Dual Energy X-ray Absorptiometry; Lunar DPX-L, U.S.A.). RESULTS: There were significant differences in VDR gene allele frequency when compared with those in Caucasians. The BsmI polymorphism was consisted of 0.8% BB homozygotes, 12.4% Bb heterozygotes, and 86.8% bb homozygotes. The ApaI polymorphism was 6.8% AA homozygotes, 42.0% Aa heterozygotes, and 51.2% aa homozygotes, and the TaqI polymorphism was 83.2% TT homozygotes, 16.8% Tt heterozygotes, and 0% tt homozygotes. When these three VDR-RFLP were combined, bbaaTT(51.2%), bbAaTT(29.6%), and BbAaTt(10.0%) were found to be most frequent types. There were no significant relationship between VDR-RFLP and BMD measured at the 2nd to 4th lumbar spine in all subjects. But there were significant relationship between VDR-RFLP and BMD at the proxmial femur in all subjects. Compared with bb or bbaaTT(or bbAaTT), women with the Bb or BbAaTt genotypes had significantly lower bone mineral densities at the proximal femur in all subjects. When we restricted the analysis to early postmenopausal women less than 10 years since menopause, these findings were more pronounced. CONCLUSION: These results suggest that VDR-RFLP may affect on BMD at the proximal femur in Korean women. However, the frequencies of B, A, and t alleles are very low in Korean women compared to those of Caucasians, further studies will be needed, with larger sample sizes.
- A Case with Isolated ACTH Deficiency.
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Myoung Sik Kim, Byung Doo Lee, Sang Min Shin, Young Il Kim, Byung Oh Jeong, Hong Jib Choi, Phil Ho Kim, Kyung Soo Ko, Jae Hong Park
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J Korean Endocr Soc. 1996;11(4):538-543. Published online November 7, 2019
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- Isolated ACTH deficiency is a rare cause of secondary adrenocortical insufficiency. Adrenal crisis in isolated ACTH deficiency is less common compared to primary adrenal insufficiency, but isolated ACTH deficiency is an important cause of hypoglycemia. Recently we experienced a 41-year-old man admitted because of mental confusion. On admission, plasma glucose and sodium concentration were 1.7, 132 mmol/L, respectively. Basal plasma ACTH and cortisol levels were low and other pituitary hormone showed normal response to combined pituitary stimulation test except growth hormone. Plasma ACTH concentration remained low even after intravenous injection of ovine corticotropin releasing factor. It suggest that the defect of ACTH secretion was apparently due to intrinsic pituitary rather than hypothalamic disease. The sellar CT showed the fossa to be filled by cerebrospinal fluid. After treatment with glucocorticoid, he had no further evidence of hypoglycemia and hyponatremia. In conclusion, we report a case of isolated ACTH deficiency with empty sella.
- A Korean Pedigree of Paget Bone Disease: Including a Case of Panostotic Paget Bone Disease complicated with Giant Cell Reparative Granuloma.
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Eui Tae Jeong, Jae Hong Park, Do Hyeong Kim, Byoung Oh Jeong, Kyung Soo Ko, Byoung Doo Rhee
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J Korean Endocr Soc. 1995;10(4):456-466. Published online November 7, 2019
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- The polyglandular autoimmune syndrome designates the dysfunction of endocrine and nonendocrine system involving two or more organs on the basis of an autoimmune mechanism. The autoimmune nature of these diseases has been based on the presence of lymphocytic infiltration in the affected gland, organ specific autoantibodies in the serum, cellular immune defects and an association with the HLA DR/DQ genes or immune response genes. This syndrome is usually classified into three classes and their etiology or pathogenesis is still not completely understood. A 28-year-old woman developed vitiligo and insulin dependent diabetes mellitus during the treatment of Graves' disease with antithyroid drug. She had a tendency of spontaneous ketonemia and serum c-peptide levels were low(0.21, 0.16ng/mL: fasting and glucagon stimulated). Thyrotrophin binding inhibitor immunoglobulin and pancreas iIslet cell cytoplasmic antibody were positive. We report here a case of polyglandular autoimmune syndrome, type III manifesting Graves' disease, vitiligo, and insulin dependent diabetes mellitus.
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