Endocrinology and Metabolism

Editorial

Diabetes, obesity and metabolism
Potential of γ-Glutamyl Transferase as a Novel Risk Factor for Cardiovascular Disease: Sang Youl Rhee; Endocrinol Metab. 2023;38(6):667-668. Published online December 22, 2023; DOI: https://doi.org/10.3803/EnM.2023.602

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Letter

Diabetes
Letter: Favorable Glycemic Control with Once-Daily Insulin Degludec/Insulin Aspart after Changing from Basal Insulin in Adults with Type 2 Diabetes (Endocrinol Metab 2019; 34:382-9, Han Na Jang et al.): Sang Youl Rhee; Endocrinol Metab. 2020;35(1):192-193. Published online March 19, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.1.192

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Review Article

Hypoglycemia and Dementia: Sang Youl Rhee; Endocrinol Metab. 2017;32(2):195-199. Published online June 23, 2017; DOI: https://doi.org/10.3803/EnM.2017.32.2.195

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Recently, cardiovascular morbidity and mortality have been continuously reduced in people with diabetes through the intensive management of multiple risk factors. However, contrary to this trend, the prevalence and clinical significance of neurodegenerative disorders are steadily increasing. In previous studies, diabetes mellitus has been found to play an important role in increasing the risk of dementia and cognitive dysfunction through various mechanisms. In particular, hypoglycemia is a frequent clinical situation in the strict management of diabetes and is well known as an important factor that directly affects the risk of dementia and cognitive impairment. This article describes the occurrence of hypoglycemia in patients with diabetes, and summarizes the resultant risks of dementia and cognitive dysfunction.

Citations

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Christian Michael Perez, Zhenghua Gong, Changwon Yoo, Deodutta Roy, Alok Deoraj, Quentin Felty
Molecular Neurobiology.2024; 61(2): 835. CrossRef
Continuous glucose monitoring assessment in patients suffering from anorexia nervosa reveals chronic prolonged mild hypoglycemia all over the nycthemeron
Natacha Germain, Clara Devin Genteuil, Gwenaëlle Belleton, Trecy Lopes Da Silva, Chloé Exbrayat, Fabien Degas, Amira Hammour, Aurélia Gay, Baptiste Ravey, Catherine Massoubre, Bogdan Galusca
European Eating Disorders Review.2023; 31(3): 402. CrossRef
Protective Potential of β-Hydroxybutyrate against Glucose-Deprivation-Induced Neurotoxicity Involving the Modulation of Autophagic Flux and the Monomeric Aβ Level in Neuro-2a Cells
Yi-Fen Chiang, Ngan Thi Kim Nguyen, Shih-Min Hsia, Hsin-Yuan Chen, Shyh-Hsiang Lin, Ching-I Lin
Biomedicines.2023; 11(3): 698. CrossRef
The effect of first- and second-generation antipsychotics on brain morphology in schizophrenia: A systematic review of longitudinal magnetic resonance studies with a randomized allocation to treatment arms
Konstantinos N Fountoulakis, Stephen M Stahl
Journal of Psychopharmacology.2022; 36(4): 428. CrossRef
Weight-loss induced by carbohydrate restriction does not negatively affect health-related quality of life and cognition in people with type 2 diabetes: A randomised controlled trial
Nicole Jacqueline Jensen, Helena Zander Wodschow, Mads Juul Skytte, Amirsalar Samkani, Arne Astrup, Jan Frystyk, Bolette Hartmann, Jens Juul Holst, Thomas Meinert Larsen, Sten Madsbad, Faidon Magkos, Kamilla Woznica Miskowiak, Steen Bendix Haugaard, Thure
Clinical Nutrition.2022; 41(7): 1605. CrossRef
Amyloid $$upbeta$$ (1–42) peptide impairs mitochondrial respiration in primary human brain microvascular endothelial cells: impact of dysglycemia and pre-senescence
Siva S. V. P. Sakamuri, Venkata N. Sure, Xiaoying Wang, Gregory Bix, Vivian A. Fonseca, Ricardo Mostany, Prasad V. G. Katakam
GeroScience.2022; 44(6): 2721. CrossRef
Analysis of patients with dementia: Use of computer tomographic and vascular risk
Mauricio Sánchez-Barajas, Tirtha Prasad-Mukhopadhyay, José María De la Roca-Chiapas, Teodoro Córdova-Fraga
Revista de Fisioterapia y Tecnología Médica.2022; : 1. CrossRef
The report of the joint WPA/CINP workgroup on the use and usefulness of antipsychotic medication in the treatment of schizophrenia
Konstantinos N. Fountoulakis, Hans-Jurgen Moeller, Siegfried Kasper, Carol Tamminga, Shigeto Yamawaki, Rene Kahn, Rajiv Tandon, Christoph U. Correll, Afzal Javed
CNS Spectrums.2021; 26(6): 562. CrossRef
Target attainment in insulin-naive patients at high risk for hypoglycemia: Results from ACHIEVE Control
John Anderson, Luigi Meneghini, Debbie Hinnen, Jasvinder Gill, Mathieu Coudert, Pierre Evenou, Medha Munshi
Journal of Diabetes and its Complications.2021; 35(4): 107831. CrossRef
Hypoglycemia, Vascular Disease and Cognitive Dysfunction in Diabetes: Insights from Text Mining-Based Reconstruction and Bioinformatics Analysis of the Gene Networks
Olga V. Saik, Vadim V. Klimontov
International Journal of Molecular Sciences.2021; 22(22): 12419. CrossRef
Association between the Use of Dipeptidyl Peptidase 4 Inhibitors and the Risk of Dementia among Patients with Type 2 Diabetes in Taiwan
Kuan-Chan Chen, Chi-Hsiang Chung, Chieh-Hua Lu, Nian-Sheng Tzeng, Chien-Hsing Lee, Sheng-Chiang Su, Feng-Chih Kuo, Jhih-Syuan Liu, Chang-Hsun Hsieh, Wu-Chien Chien
Journal of Clinical Medicine.2020; 9(3): 660. CrossRef

Case Reports

Thyroid
Celiac Disease in a Predisposed Subject (HLA-DQ2.5) with Coexisting Graves' Disease: In Kyoung Hwang, Seon Hye Kim, Unjoo Lee, Sang Ouk Chin, Sang Youl Rhee, Seungjoon Oh, Jeong-Taek Woo, Sung-Woon Kim, Young Seol Kim, Suk Chon; Endocrinol Metab. 2015;30(1):105-109. Published online March 27, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.1.105

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Celiac disease is an intestinal autoimmune disorder, triggered by ingestion of a gluten-containing diet in genetically susceptible individuals. The genetic predisposition is related to human leukocyte antigen (HLA) class II genes, especially HLA-DQ2-positive patients. The prevalence of celiac disease has been estimated to be ~1% in Europe and the USA, but it is rarer and/or underdiagnosed in Asia. We report a case of celiac disease in a predisposed patient, with a HLA-DQ2 heterodimer, and Graves' disease that was treated successfully with a gluten-free diet. A 47-year-old woman complained of persistent chronic diarrhea and weight loss over a 9 month period. Results of all serological tests and stool exams were negative. However, the patient was found to carry the HLA DQ2 heterodimer. Symptoms improved after a gluten-free diet was initiated. The patient has been followed and has suffered no recurrence of symptoms while on the gluten-free diet. An overall diagnosis of celiac disease was made in a genetically predisposed patient (HLA-DQ2 heterodimer) with Graves' disease.

Citations

Citations to this article as recorded by

Celiac Disease Genetics, Pathogenesis, and Standard Therapy for Japanese Patients
Tasuku Tamai, Kenji Ihara
International Journal of Molecular Sciences.2023; 24(3): 2075. CrossRef
Underutilization of diagnostic assays for celiac disease in Korea
Rihwa Choi, Sang Gon Lee, Eun Hee Lee
Journal of Clinical Laboratory Analysis.2021;[Epub] CrossRef
Olmesartan is not associated with the risk of enteropathy: a Korean nationwide observational cohort study
Seng Chan You, Hojun Park, Dukyong Yoon, Sooyoung Park, Boyoung Joung, Rae Woong Park
The Korean Journal of Internal Medicine.2019; 34(1): 90. CrossRef
Prevalence of celiac disease in Asia: A systematic review and meta‐analysis
Prashant Singh, Shubhangi Arora, Alka Singh, Tor A Strand, Govind K Makharia
Journal of Gastroenterology and Hepatology.2016; 31(6): 1095. CrossRef

Adrenal gland
Acromegaly due to a Macroinvasive Plurihormonal Pituitary Adenoma and a Rectal Carcinoid Tumor: Sang Ouk Chin, Jin-Kyung Hwang, Sang Youl Rhee, Suk Chon, Seungjoon Oh, Misu Lee, Natalia S. Pellegata, Sung-Woon Kim; Endocrinol Metab. 2015;30(3):389-394. Published online January 5, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.3.389

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A macroinvasive pituitary adenoma with plurihormonality usually causes acromegaly and hyperprolactinemia, and also accompanies with neurologic symptoms such as visual disturbances. However, its concurrent presentation with a rectal carcinoid tumor is rarely observed. This study reports the history, biochemical, colonoscopic and immunohistochemical results of a 48-year-old female with acromegaly and hyperprolactinemia. Despite the large size and invasive nature of the pituitary adenoma to adjacent anatomical structures, she did not complain of any neurologic symptoms such as visual disturbance or headache. Immunohistochemical staining of the surgical specimen from the pituitary adenoma revealed that the tumor cells were positive for growth hormone (GH), prolactin (PRL), and thyroid stimulating hormone (TSH). Staining for pituitary-specific transcription factor-1 (Pit-1) was shown to be strongly positive, which could have been possibly contributing to the plurihormonality of this adenoma. Colonoscopy found a rectal polyp that was identified to be a carcinoid tumor using immunohistochemical staining. A macroinvasive pituitary adenoma with concomitant rectal carcinoid tumor was secreting GH, PRL, and TSH, which were believed to be in association with over-expression of Pit-1. This is the first case report of double primary tumors comprising a plurihormonal pituitary macroadenoma and rectal carcinoid tumor.

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Clinical Characteristics and Management of Cosecreting Thyroid Stimulating Hormone or Prolactin Pituitary Growth Hormone Adenomas: A Case-Control Study
Caiyan Mo, Han Chen, Jian Xu, Ying Guo, Yao Wang, Zheng Li, Tao Tong, Songbai Gui, Liyong Zhong
Endocrine Practice.2024;[Epub] CrossRef
Growth Hormone Excess: Implications and Management
Suneela Dhaneshwar, Shrishti Shandily, Vatsalya Tiwari
Endocrine, Metabolic & Immune Disorders - Drug Targets.2023; 23(6): 748. CrossRef
Pleiomorphism plurihormonal Pit-1-positive macroadenoma with central hyperthyroidism: a rare case report and literature review
Guiliang Peng, Chuanhong Guo, Yangfan Lv, Dandan Li, Ling Zhou, Rufei Shen, Yong Chen, Xin Zheng, Zheng Sun, Hongting Zheng, Min Long
BMC Endocrine Disorders.2022;[Epub] CrossRef

Original Article

Thyroid
Insufficient Experience in Thyroid Fine-Needle Aspiration Leads to Misdiagnosis of Thyroid Cancer: Jung Il Son, Sang Youl Rhee, Jeong-taek Woo, Won Seo Park, Jong Kyu Byun, Yu-Jin Kim, Ja Min Byun, Sang Ouk Chin, Suk Chon, Seungjoon Oh, Sung Woon Kim, Young Seol Kim; Endocrinol Metab. 2014;29(3):293-299. Published online September 25, 2014; DOI: https://doi.org/10.3803/EnM.2014.29.3.293

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Background

Fine-needle aspiration (FNA) of the thyroid is a widely accepted confirmatory test for thyroid cancer with high sensitivity and specificity. FNA is a simple procedure that is learned by many clinicians to enable accurate diagnosis of thyroid cancer. However, it is assumed that because the FNA test is a relatively simple procedure, its cytologic results are reliable regardless of the operator's experience. The aim of this study was to evaluate the differences in the diagnostic indices of FNA between operators with different levels of experience.

Methods

A total of 694 thyroid FNA specimens from 469 patients were reviewed, and were separated based on the experience of the clinicians who performed the procedure. One hundred and ninety were categorized in the experienced group, and 504 in the inexperienced group. All FNA results were then compared with histological data from surgically resected specimens, and the sample adequacy and diagnostic accuracy of the groups were compared.

Results

The age, gender, and nodule size and characteristics were similar in both groups. The sample adequacy rate was not significantly different between the experienced and nonexperienced groups (96.3% vs. 95.4%, P=0.682). However, the non-experienced group had a higher false-negative rate than the experienced group (6.4% vs. 17.2%, P=0.038), and the sensitivity of the FNA test also tended to be lower in the nonexperienced group (95.6% vs. 88.9%, P=0.065).

Conclusion

These results suggest that FNA operators who have less experience may miss cases of thyroid cancer by performing the procedure incorrectly. As such, the experience of the FNA operator should be considered when diagnosing thyroid cancer. When clinicians are being trained in FNA, more effort should be made to increase the accuracy of the procedure; therefore, enhanced teaching programs and/or a more detailed feedback system are recommended.

Citations

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The Role of MMP-9 and MMP-9 Inhibition in Different Types of Thyroid Carcinoma
Zhenshengnan Li, Jia Wei, Bowen Chen, Yaoqi Wang, Shuai Yang, Kehui Wu, Xianying Meng
Molecules.2023; 28(9): 3705. CrossRef
Telecytology rapid onsite evaluation, with real-time communication between cytopathologist, cytotechnologist, and proceduralist, offers better adequacy rates for lymph node, but not thyroid, fine-needle aspirations
Robert Post, Kelly Doxzon, Allison Goldberg
Journal of the American Society of Cytopathology.2023; 12(6): 407. CrossRef
Needle Biopsy Adequacy in the Era of Precision Medicine and Value-Based Health Care
Kenneth P. H. Pritzker, Heikki J. Nieminen
Archives of Pathology & Laboratory Medicine.2019; 143(11): 1399. CrossRef
The expression profile of integrin receptors and osteopontin in thyroid malignancies varies depending on the tumor progression rate and presence of BRAF V600E mutation
Galina Chernaya, Nina Mikhno, Tatiana Khabalova, Svetlana Svyatchenko, Lyudmila Mostovich, Sergey Shevchenko, Lyudmila Gulyaeva
Surgical Oncology.2018; 27(4): 702. CrossRef
Can thyroid surgery be decided based on ultrasonographic findings, irrespective of cytopathological findings? Five-year retrospective study in a district general hospital
A.A. Elsayed, C. Murdoch, S. Murray, K. Bashir
Clinical Radiology.2017; 72(2): 170. CrossRef
Efficacy of ultrasound‐guided fine‐needle aspiration performed by surgeons newly trained in thyroid ultrasound
Agnaldo J. Graciano, Carlos A. Fischer, Carlos T. Chone, Giuliano S. Bublitz, Marina Sonagli, Cezar A. Rodrigues Filho
Head & Neck.2017; 39(3): 439. CrossRef
Usefulness of NRAS codon 61 mutation analysis and core needle biopsy for the diagnosis of thyroid nodules previously diagnosed as atypia of undetermined significance
Eun Kyung Jang, Won Gu Kim, Eui Young Kim, Hyemi Kwon, Yun Mi Choi, Min Ji Jeon, Jung Hwan Baek, Jeong Hyun Lee, Tae Yong Kim, Young Kee Shong, Jene Choi, Dong Eun Song, Won Bae Kim
Endocrine.2016; 52(2): 305. CrossRef
Articles in 'Endocrinology and Metabolism' in 2014
Won-Young Lee
Endocrinology and Metabolism.2015; 30(1): 47. CrossRef
Carcinosarcoma of the Thyroid Gland
Mehmet Fatih Ekici, Cengiz Kocak, Zülfü Bayhan, Sezgin Zeren, Faik Yaylak, Mehmet Hüseyin Metineren, Fatma Emel Kocak
Case Reports in Surgery.2015; 2015: 1. CrossRef
Letter: Insufficient Experience in Thyroid Fine-Needle Aspiration Leads to Misdiagnosis of Thyroid Cancer (Endocrinol Metab2014;29:293-9, Jung Il Son et al.)
Hyon-Seung Yi, Sihoon Lee
Endocrinology and Metabolism.2014; 29(4): 590. CrossRef
Response: Insufficient Experience in Thyroid Fine-Needle Aspiration Leads to Misdiagnosis of Thyroid Cancer (Endocrinol Metab2014;29:293-9, Jung Il Son et al.)
Jung Il Son, Jeong-taek Woo
Endocrinology and Metabolism.2014; 29(4): 592. CrossRef

Case Report

A Case of Type Ia Glycogen Storage Disease Diagnosed in the Military Hospital.: Tae Woong Lee, Sang Youl Rhee, Joo Young Kim, Gu Hwan Kim, Han Wook Yoo, Jeong Taek Woo, Byung Ho Kim; Endocrinol Metab. 2011;26(1):84-88. Published online March 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.1.84

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Abstract PDF: We report here on a case of genetically confirmed type Ia glycogen storage disease (GSD) that was diagnosed in the military hospital. A twenty-year old soldier was admitted to the hospital with abdominal fullness. He had a past medical history of hepatomegaly that was firstly recognized at six months after birth, and he had been followed-up at an outpatient clinic with the presumptive diagnosis of type III GSD. He also had a history of growth hormone therapy because of growth retardation. However, he arbitrarily refused medical observation from 14 years of age. On the physical examination, the height of the patient was 163.1 cm and significant hepatomegaly was observed. Significantly abnormal liver-associated paramters were observed on the laboratory findings and multiple hepatic adenomas were observed on the CT exam and MRI scan. To determine the proper treatment, we tried to confirm the exact type of GSD in the patient. By mutational analysis, we found the c.648G>T homozygote splicing mutation in the G6PC gene and the patient was confirmed as having the type Ia GSD.

Review Article

Evidence Based Medicine in Endocrinology.: Sang Youl Rhee, Young Seol Kim; J Korean Endocr Soc. 2008;23(6):379-390. Published online December 1, 2008; DOI: https://doi.org/10.3803/jkes.2008.23.6.379

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Abstract PDF: No abstract available.

Retraction of Publication

Retraction: Multi-country Study on the Prevalence and Clinical Features of Peripheral Arterial Disease in Type 2 Diabetic Patients Who are at High Risk for Atherosclerosis.: Sang Youl Rhee, Seungjoon Oh, Young Kil Choi, Doo Man Kim, Bong Yun Cha, Hyun Chul Lee, Seung Woo Ha, In Kyu Lee, Tae Sun Park, Min Young Chung, In Joo Kim, Moon Kyu Lee, Sung Soo Koong, Kyung Soo Park, Kyung Wan Min, Young Seol Kim; J Korean Endocr Soc. 2007;22(6):478. Published online December 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.6.478

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Case Reports

A Case of Type I Osteogenesis Imperfecta Differentially Diagnosed as a Cause of a Spinal Compression Fracture.: Sang Youl Rhee, Soo Young Moon, Suk Chon, In Kyung Jeong, Seungjoon Oh, Kyu Jeung Ahn, Ho Yeon Chung, Jeong Taek Woo, Sung Woon Kim, Young Seol Kim, Jin Woo Kim; J Korean Endocr Soc. 2007;22(6):446-452. Published online December 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.6.446

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Abstract PDF: Osteogenesis imperfecta (OI) is a genetic disease that is caused by a synthetic anomaly of type I collagen. It is characterized by such features as low bone density, multiple fractures, bone deformities and chronic bone pain. According to the hereditary pattern and degree of phenotypical expression, it also has various extraskeletal manifestations such as blue sclera, hearing deformities and dentinogenesis imperfecta. Recently, an expanded seven subgroup classification of OI has been suggested by means of its clinical severity and mutational characteristics. However, most of the OI cases reported in Korea have been classified as type II or III that can be diagnosed easily and present with severe clinical manifestations. Only rare type I OI cases have been currently reported in Korea. Herein, we report a case of type I OI that was differentially diagnosed as a cause of a spinal compression fracture.

A Case of Osteomalacia Caused by Severe Vitamin D Deficiency.: Seok Yeon Kim, Sang Youl Rhee, Soo Young Moon, Suk Chon, In Kyung Jeong, Seungjoon Oh, Kyu Jeung Ahn, Deog Yoon Kim, Ho Yeon Chung, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Jeong Taek Woo; J Korean Endocr Soc. 2007;22(1):55-61. Published online February 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.1.55

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Abstract PDF

Vitamin D is a kind of hormone that can be synthesized in the skin or it is supplied in the diet it is involved in a central role in bone and calcium homeostasis in vivo. Metabolic bone diseases such as rickets in children and osteomalacia in adults can also be caused by deficiency or metabolic defects in the vitamin D hormone related system. However, there has been a lack of generalized epidemiologic studies about the vitamin D deficiency status in Koreans. We recently experienced a case of osteomalacia caused by severe vitamin D deficiency. These kinds of case have not been reported elsewhere in Korea for the last twenty years.

Citations

Citations to this article as recorded by

A Case of Nutritional Osteomalacia in Young Adult Male
Choong-Kyun Noh, Min-Jeong Lee, Bu Kyung Kim, Yoon-Sok Chung
Journal of Bone Metabolism.2013; 20(1): 51. CrossRef

Original Articles

Multi-country Study on the Prevalence and Clinical Features of Peripheral Arterial Disease in Type 2 Diabetic Patients Who are at High Risk for Atherosclerosis.: Sang Youl Rhee, Seungjoon Oh, Young Kil Choi, Doo Man Kim, Bong Yun Cha, Hyun Chul Lee, Seung Woo Ha, In Kyu Lee, Tae Sun Park, Min Young Chung, In Joo Kim, Moon Kyu Lee, Sung Soo Koong, Kyung Soo Park, Kyung Wan Min, Young Seol Kim; J Korean Endocr Soc. 2006;21(4):290-301. Published online August 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.4.290

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Abstract PDF: BACKGROUND
PAD-SEARCH (Peripheral Arterial Disease-Screening and Evaluation of diabetic patients in Asian Regions Characterized by High risk factors) is the first international study to investigate the prevalence of peripheral arterial disease (PAD) in Asian type 2 diabetic patients and to demonstrate the relationships between the putative risk factors and PAD in this population. METHODS: A total of 6,625 type 2 diabetic patients (2,873 males and 3,752 females aged 50 and older) were enrolled in PAD-SEARCH in Korea, China, Taiwan, Hong Kong, Indonesia, Thailand and Philippines from October 2003 to March 2004. The Fukuda vascular profile VS-1000(TM) was used to determine the ankle-brachial index (ABI) and the brachial-ankle pulse wave velocity (baPWV). RESULTS: The mean patient age was 63.7 +/- 8.2 years and the mean duration of diabetes was 10.3 +/- 8.0 years. 1,172 (17.7%) subjects were diagnosed as PAD by the ABI (< or = 0.9). Subjects with PAD had a significantly longer duration of diabetes or hypertension, a higher HbA1c level and a significantly lower mean BMI than did the non-PAD subjects. In terms of the lipid profiles, triglyceride was the only significant variable. Notably, the mean ABI and baPWV in the females were significantly poorer than the age matched males for the in subjects with a normal ABI. However, the mean ABI and baPWV in males were significantly poorer than those of the age matched females for the subjects with PAD. On the multivariate analysis, gender, age, BMI, smoking status, duration of diabetes and a previous history of cerebrovascular disease were identified as the independent risk factors of PAD. CONCLUSION: These findings suggest that PAD is a common complication in Asian type 2 diabetic patients. Therefore, PAD screening and treatment should be emphasized for Asian diabetic patients with high risk factors.

Mutational Analysis of Gsalpha Protein in Fibrous dysplasia of the Bone.: Sang Youl Rhee, Jeong Taek Woo, Gwanpyo Koh, Seungjoon Oh, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Yong Koo Park; J Korean Endocr Soc. 2005;20(2):142-147. Published online April 1, 2005; DOI: https://doi.org/10.3803/jkes.2005.20.2.142

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Abstract PDF: 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

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