- Mutational Analysis of Gsalpha Protein in Fibrous dysplasia of the Bone.
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Sang Youl Rhee, Jeong Taek Woo, Gwanpyo Koh, Seungjoon Oh, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Yong Koo Park
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J Korean Endocr Soc. 2005;20(2):142-147. Published online April 1, 2005
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DOI: https://doi.org/10.3803/jkes.2005.20.2.142
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 Abstract
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- BACKGROUND
Fibrous dysplasia of the bone(FD) is a benign fibrous bone lesion which usually involves the long bones of the extremities. FD may be asymptomatic, but often leads to bone deformity and pathological fracture. The disease is caused by a somatic mutation in the Gsalpha protein, which is responsible for intracellular signal transduction. METHODS: Mutations in the GNAS1 gene, which codes for Gsalpha protein, was investigated in 34 patients with monostotic and polyostotic FD and McCune-Albright syndrome. DNA was extracted from formalin-fixed, paraffin embedded bone tissues, and exons 8 and 9 of the GNAS1 gene amplified using a polymerase chain reaction(PCR). Subsequently, plasmid cloning and DNA sequencing analysis were performed. RESULTS: The PCR was successfully performed in 5 patients with monostotic FD. However, the sequencing analysis failed to identify any significant point mutations in exons 8 or 9 of GNAS1. Nevertheless, 3 point mutations were observed in the intron of the GNAS1 gene in 2 samples. CONCLUSION: In addition to the previously known somatic mutations of the GNAS1 gene, this study suggests that fibrous dysplasia of the bone might be associated with another point mutations of the GNAS1 gene
- A Case of Klinefelter's Syndrome with Rathke's Cleft Cyst.
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Hyun Joo Lee, Hyo Kyoung Park, Dae Jung Kim, Yu Mie Rhee, Chul Woo Ahn, Sang Soo Jung, Jae Hyun Nam, Bong Soo Cha, Young Duk Song, Sung Kil Lim, Kyung Rae Kim, Yong Koo Park, Hyun Chul Lee, Kap Bum Huh
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J Korean Endocr Soc. 2002;17(4):564-571. Published online August 1, 2002
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- Klinefelter's syndrome is one of the most common forms of primary hypogonadism presenting with gynecomastia, azospermia and increased follicle-stimulating hormone. It is well known that this syndrome has an increased incidence of neoplasia, especially breast cancer and extragonadal germ cell tumors. However, it is rarely associated with an intracranial tumor of maldevelopmental origin, especially in the suprasellar area. We report, for the first time, a case of Klinefelter's syndrome, with a Rathke's cleft cyst is the patient was a 32-year-old male who was known to have an incidentaloma form brain computed tomography, which was clinically diagnosed as a suprasellar tumor. After operating, the suprasellar mass was confirmed as a Rathke's cleft cyst, and his hormonal abnormality, an elevated level of follicle-stimulating hormone, was not normalized. Therefore, we performed chromosomal analysis, and diagnosed Klinefelter's syndrome with the XXY karyotype.
- Histomorphometry of Osteogenesis Imperfecta I.
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Seong Bin Hong, Suk Myun Ko, Yong Koo Park, Young Joo Park, Yoon Juo Oh, Young Wan Kim, Sung Ki Kim, Moon Suk Nam, Yong Seong Kim
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J Korean Endocr Soc. 2002;17(1):117-123. Published online February 1, 2002
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- Osteoporosis imperfecta (OI) is a genetic disorder characterized by fragility of bone, deafness, blue sclerae; and laxity of joints. Four types of OI are distinguished by clinical findings. Although mutations affecting collagen I are responsible for the disease in the most patients, the mechanism by which the genetic defects cause abnormal bone development has not been well established. Therefore we evaluated static and dynamic bone histomorphometry of type I OI in the case study of a 15 year old boy with OI who had blue sclerae, a history of frequent fracture and a familial history of blue sclerae. Biopsy of the ilium showed loss of connection between the cortical bone and trabecular bones. The Harversian system in the cortical bone was poorly developed. In the trabecular bones, the lamellar pattern was poorly developed. Mineral apposition rate of the cortical bone was 1.0 m/day and of the trabecular bone was 0.79 m/day. Thus OI might be regard as a disease whereby abnormal collagen synthesis interferes with bone strength by multiple mechanisms.
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