Endocrinology and Metabolism

Kyong Hye Joung (Joung KH)

5 Articles

Clinical Study
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis: Seon Young Kim, Younghak Lee, Yea Eun Kang, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong, Hyon-Seung Yi; Endocrinol Metab. 2018;33(3):380-386. Published online September 18, 2018; DOI: https://doi.org/10.3803/EnM.2018.33.3.380

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Background

Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing.

Methods

We evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function.

Results

Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect by PolyPhen-2 software.

Conclusion

We detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.

Citations

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Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
Xiu-Li Song, Li-Yuan Peng, Dao-Wen Wang, Hong Wang
World Journal of Clinical Cases.2022; 10(20): 6936. CrossRef
Magnetic resonance findings in a Cavalier King Charles spaniel with osteopetrosis, Chiari‐like malformation and syringomyelia
Ricardo Fernandes, C J Jordan, Colin Driver
Veterinary Record Case Reports.2019;[Epub] CrossRef

Clinical Study
The Eosinophil Count Tends to Be Negatively Associated with Levels of Serum Glucose in Patients with Adrenal Cushing Syndrome: Younghak Lee, Hyon-Seung Yi, Hae Ri Kim, Kyong Hye Joung, Yea Eun Kang, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong; Endocrinol Metab. 2017;32(3):353-359. Published online September 18, 2017; DOI: https://doi.org/10.3803/EnM.2017.32.3.353

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Background

Cushing syndrome is characterized by glucose intolerance, cardiovascular disease, and an enhanced systemic inflammatory response caused by chronic exposure to excess cortisol. Eosinopenia is frequently observed in patients with adrenal Cushing syndrome, but the relationship between the eosinophil count in peripheral blood and indicators of glucose level in patients with adrenal Cushing syndrome has not been determined.

Methods

A retrospective study was undertaken of the clinical and laboratory findings of 40 patients diagnosed with adrenal Cushing syndrome at Chungnam National University Hospital from January 2006 to December 2016. Clinical characteristics, complete blood cell counts with white blood cell differential, measures of their endocrine function, description of imaging studies, and pathologic findings were obtained from their medical records.

Results

Eosinophil composition and count were restored by surgical treatment of all of the patients with adrenal Cushing disease. The eosinophil count was inversely correlated with serum and urine cortisol, glycated hemoglobin, and inflammatory markers in the patients with adrenal Cushing syndrome.

Conclusion

Smaller eosinophil populations in patients with adrenal Cushing syndrome tend to be correlated with higher levels of blood sugar and glycated hemoglobin. This study suggests that peripheral blood eosinophil composition or count may be associated with serum glucose levels in patients with adrenal Cushing syndrome.

Citations

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Inverse relationship between eosinophil profiles and serum glucose concentration in dogs with naturally occurring hypercortisolism
Jimin Oh, Dohee Lee, Taesik Yun, Yoonhoi Koo, Yeon Chae, Mhan-Pyo Yang, Byeong-Teck Kang, Hakhyun Kim
Domestic Animal Endocrinology.2022; 80: 106727. CrossRef
Serum Cortisol and Its Correlation with Leucocyte Profile and Circulating Lipids in Donkeys (Equus asinus)
Daniela Alberghina, Alessandra Statelli, Vincenzo Monteverde, Irene Vazzana, Giuseppe Cascone, Michele Panzera
Animals.2022; 12(7): 841. CrossRef
Changes in leukocytes and CRP in different stages of major depression
Deepti Singh, Paul C. Guest, Henrik Dobrowolny, Veronika Vasilevska, Gabriela Meyer-Lotz, Hans-Gert Bernstein, Katrin Borucki, Alexandra Neyazi, Bernhard Bogerts, Roland Jacobs, Johann Steiner
Journal of Neuroinflammation.2022;[Epub] CrossRef
HIF1α is a direct regulator of steroidogenesis in the adrenal gland
Deepika Watts, Johanna Stein, Ana Meneses, Nicole Bechmann, Ales Neuwirth, Denise Kaden, Anja Krüger, Anupam Sinha, Vasileia Ismini Alexaki, Luis Gustavo Perez-Rivas, Stefan Kircher, Antoine Martinez, Marily Theodoropoulou, Graeme Eisenhofer, Mirko Peitz
Cellular and Molecular Life Sciences.2021; 78(7): 3577. CrossRef
The Immune System in Cushing’s Syndrome
Valeria Hasenmajer, Emilia Sbardella, Francesca Sciarra, Marianna Minnetti, Andrea M. Isidori, Mary Anna Venneri
Trends in Endocrinology & Metabolism.2020; 31(9): 655. CrossRef

Obesity and Metabolism
Plasma Adiponectin Levels in Elderly Patients with Prediabetes: Si Eun Kong, Yea Eun Kang, Kyong Hye Joung, Ju Hee Lee, Hyun Jin Kim, Bon Jeong Ku; Endocrinol Metab. 2015;30(3):326-333. Published online August 4, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.3.326

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Background

The significance of adiponectin levels in elderly individuals with prediabetes has yet to be determined. Thus, the present study was performed to evaluate the relationships between adiponectin levels and anthropometric variables, body composition parameters, insulin sensitivity, and lipid profiles in elderly prediabetic patients.

Methods

The present study included 120 subjects with prediabetes who were >65 years of age and were selected from among 1,993 subjects enrolled in the Korea Rural Genomic Cohort Study. All subjects underwent a 75 g oral glucose tolerance test and tests for measurement of insulin sensitivity. All diagnoses of prediabetes satisfied the criteria of the American Diabetes Association.

Results

Plasma adiponectin levels were lower in elderly prediabetic subjects than elderly subjects with normal glucose tolerance (P<0.01) as well as in elderly prediabetic patients with metabolic syndrome (MetS) than in those without MetS (P<0.02). When the subjects were categorized into two groups according to plasma adiponectin levels, the waist-to-hip ratio and 2-hour insulin levels were significantly lower in individuals with high plasma adiponectin levels than in those with low plasma adiponectin levels. Additionally, the plasma adiponectin levels of elderly prediabetic subject were inversely correlated with body mass index (BMI), waist circumference (WC), waist-to-hip ratio, visceral fat, visceral fat ratio, and 2-hour insulin levels.

Conclusion

The present findings demonstrated that the major factors correlated with adiponectin levels in elderly prediabetic subjects were BMI, WC, waist-to-hip ratio, visceral fat, visceral fat ratio, and 2-hour insulin levels.

Citations

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Differential Association of Selected Adipocytokines, Adiponectin, Leptin, Resistin, Visfatin and Chemerin, with the Pathogenesis and Progression of Type 2 Diabetes Mellitus (T2DM) in the Asir Region of Saudi Arabia: A Case Control Study
Mohammad Muzaffar Mir, Rashid Mir, Mushabab Ayed Abdullah Alghamdi, Javed Iqbal Wani, Zia Ul Sabah, Mohammed Jeelani, Vijaya Marakala, Shahzada Khalid Sohail, Mohamed O’haj, Muffarah Hamid Alharthi, Mohannad Mohammad S. Alamri
Journal of Personalized Medicine.2022; 12(5): 735. CrossRef
Postloading insulinemia is independently associated with arterial stiffness in young Japanese persons
Norimitsu Murai, Naoko Saito, Sayuri Nii, Yuto Nishikawa, Asami Suzuki, Eriko Kodama, Tatsuya Iida, Kentaro Mikura, Hideyuki Imai, Mai Hashizume, Yasuyoshi Kigawa, Rie Tadokoro, Chiho Sugisawa, Kei Endo, Toru Iizaka, Fumiko Otsuka, Shun Ishibashi, Shoichi
Hypertension Research.2021; 44(11): 1515. CrossRef
Association of Adiponectin and rs1501299 of the ADIPOQ Gene with Prediabetes in Jordan
Mahmoud Alfaqih, Faheem Al-Mughales, Othman Al-Shboul, Mohammad Al Qudah, Yousef Khader, Muhammad Al-Jarrah
Biomolecules.2018; 8(4): 117. CrossRef

Thyroid
Mitochondrial Energy Metabolism and Thyroid Cancers: Junguee Lee, Joon Young Chang, Yea Eun Kang, Shinae Yi, Min Hee Lee, Kyong Hye Joung, Kun Soon Kim, Minho Shong; Endocrinol Metab. 2015;30(2):117-123. Published online June 30, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.2.117

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Primary thyroid cancers including papillary, follicular, poorly differentiated, and anaplastic carcinomas show substantial differences in biological and clinical behaviors. Even in the same pathological type, there is wide variability in the clinical course of disease progression. The molecular carcinogenesis of thyroid cancer has advanced tremendously in the last decade. However, specific inhibition of oncogenic pathways did not provide a significant survival benefit in advanced progressive thyroid cancer that is resistant to radioactive iodine therapy. Accumulating evidence clearly shows that cellular energy metabolism, which is controlled by oncogenes and other tumor-related factors, is a critical factor determining the clinical phenotypes of cancer. However, the role and nature of energy metabolism in thyroid cancer remain unclear. In this article, we discuss the role of cellular energy metabolism, particularly mitochondrial energy metabolism, in thyroid cancer. Determining the molecular nature of metabolic remodeling in thyroid cancer may provide new biomarkers and therapeutic targets that may be useful in the management of refractory thyroid cancers.

Citations

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Development of Metabolic Synthetic Lethality and Its Implications for Thyroid Cancer
Sang-Hyeon Ju, Seong Eun Lee, Yea Eun Kang, Minho Shong
Endocrinology and Metabolism.2022; 37(1): 53. CrossRef
Monensin Inhibits Anaplastic Thyroid Cancer via Disrupting Mitochondrial Respiration and AMPK/mTOR Signaling
Yanli Li, Qianshu Sun, Sisi Chen, Xiongjie Yu, Hongxia Jing
Anti-Cancer Agents in Medicinal Chemistry.2022; 22(14): 2539. CrossRef
Growth Differentiation Factor 15 is a Cancer Cell-Induced Mitokine That Primes Thyroid Cancer Cells for Invasiveness
Yea Eun Kang, Jin Man Kim, Mi Ae Lim, Seong Eun Lee, Shinae Yi, Jung Tae Kim, Chan Oh, Lihua Liu, Yanli Jin, Seung-Nam Jung, Ho-Ryun Won, Jae Won Chang, Jeong Ho Lee, Hyun Jung Kim, Hyun Yong Koh, Sangmi Jun, Sun Wook Cho, Minho Shong, Bon Seok Koo
Thyroid.2021; 31(5): 772. CrossRef
Clinical Significance of the D-Loop Gene Mutation in Mitochondrial DNA in Laryngeal Cancer
Lei Wang, He-Xiang Cheng, Yan-Hui Zhou, Min Ma
OncoTargets and Therapy.2021; Volume 14: 3461. CrossRef
Transcriptomic and Genetic Associations between Alzheimer’s Disease, Parkinson’s Disease, and Cancer
Jaume Forés-Martos, Cesar Boullosa, David Rodrigo-Domínguez, Jon Sánchez-Valle, Beatriz Suay-García, Joan Climent, Antonio Falcó, Alfonso Valencia, Joan Anton Puig-Butillé, Susana Puig, Rafael Tabarés-Seisdedos
Cancers.2021; 13(12): 2990. CrossRef
KLF5 influences cell biological function and chemotherapy sensitivity through the JNK signaling pathway in anaplastic thyroid carcinoma
Zheng Wang, Xinguang Qiu, Hao Zhang, Weihan Li
Journal of Biochemical and Molecular Toxicology.2020;[Epub] CrossRef
Metabolic reprogramming related to whole-chromosome instability in models for Hürthle cell carcinoma
Ruben D. Addie, Sarantos Kostidis, Willem E. Corver, Jan Oosting, Sepideh Aminzadeh-Gohari, René G. Feichtinger, Barbara Kofler, Mehtap Derya Aydemirli, Martin Giera, Hans Morreau
Scientific Reports.2020;[Epub] CrossRef
Inhibition of mitochondrial respiration by tigecycline selectively targets thyroid carcinoma and increases chemosensitivity
Yuehua Wang, Fei Xie, Dejie Chen, Ling Wang
Clinical and Experimental Pharmacology and Physiology.2019; 46(10): 890. CrossRef
Investigating Therapeutic Effects of Retinoic Acid on Thyroid Cancer via Protein-Protein Interaction Network Analysis
Majid Rezaei-Tavirani, Mostafa Rezaei-Tavirani, Mona Zamanian Azodi
International Journal of Cancer Management.2019;[Epub] CrossRef
CASE REPORT: An Extensively Necrotic Hürthle-Cell Carcinoma Mimicked a Thyroid Abscess
Sanders H. Lin, Shih-Ming Huang, Su-Lin Peng
Clinical Thyroidology.2018; 30(11): 529. CrossRef
Atovaquone enhances doxorubicin’s efficacy via inhibiting mitochondrial respiration and STAT3 in aggressive thyroid cancer
Zhuo Lv, Xintong Yan, Liying Lu, Chun Su, Yin He
Journal of Bioenergetics and Biomembranes.2018; 50(4): 263. CrossRef
Identification of novel biomarker and therapeutic target candidates for diagnosis and treatment of follicular carcinoma
Xianyin Lai, Christopher B. Umbricht, Kurt Fisher, Justin Bishop, Qiuying Shi, Shaoxiong Chen
Journal of Proteomics.2017; 166: 59. CrossRef
Pathological processes and therapeutic advances in radioiodide refractory thyroid cancer
Marika H Tesselaar, Johannes W Smit, James Nagarajah, Romana T Netea-Maier, Theo S Plantinga
Journal of Molecular Endocrinology.2017; 59(4): R141. CrossRef
Integrated microRNA, gene expression and transcription factors signature in papillary thyroid cancer with lymph node metastasis
Nurul-Syakima Ab Mutalib, Sri Noraima Othman, Azliana Mohamad Yusof, Shahrun Niza Abdullah Suhaimi, Rohaizak Muhammad, Rahman Jamal
PeerJ.2016; 4: e2119. CrossRef

Bone Metabolism
A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets: Yea Eun Kang, Jun Hwa Hong, Jimin Kim, Kyong Hye Joung, Hyun Jin Kim, Bon Jeong Ku, Koon Soon Kim; Endocrinol Metab. 2014;29(2):195-201. Published online June 26, 2014; DOI: https://doi.org/10.3803/EnM.2014.29.2.195

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Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site mutation in the PHEX gene (c.663+1G>A) at the exon 5-intron 5 boundary. The patient had recently suffered from right thigh pain and an aggravated waddling gait. She also presented with very short stature, generalized bone pain, and muscle weakness. Despite low serum phosphate levels, her phosphate reabsorption rate was lower than normal. Additionally, her 1,25-dihydroxyvitamin D₃ concentration was lower than normal, although FGF23 level was normal. After treatment with alfacalcidol and elemental phosphate, her rachitic symptoms subsided, and callus formation was observed in the fracture site on the right femur.

Citations

Citations to this article as recorded by

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
Annals of Pediatric Endocrinology & Metabolism.2021; 26(2): 130. CrossRef
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin
Annals of Pediatric Endocrinology & Metabolism.2018; 23(4): 229. CrossRef
Rodzinna krzywica hipofosfatemiczna – opis przypadku i przegląd literatury
Agnieszka Jędzura, Omar Bjanid, Piotr Adamczyk, Krzysztof Plesiński, Karolina Klimaszewska-Adamus, Maria Szczepańska
Pediatria Polska.2015; 90(5): 437. CrossRef
Articles in 'Endocrinology and Metabolism' in 2014
Won-Young Lee
Endocrinology and Metabolism.2015; 30(1): 47. CrossRef

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