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Original Article
- Clinical Study
- Thyrotoxic Periodic Paralysis and Polymorphisms of the ADRB2, AR, and GABRA3 Genes in Men with Graves Disease
- Suyeon Park, Tae Yong Kim, Soyoung Sim, Seonhee Lim, Mijin Kim, Hyemi Kwon, Min Ji Jeon, Won Gu Kim, Young Kee Shong, Won Bae Kim
- Endocrinol Metab. 2016;31(1):142-146. Published online March 16, 2016
- DOI: https://doi.org/10.3803/EnM.2016.31.1.142
- 3,758 View
- 39 Download
- 4 Web of Science
- 4 Crossref
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Abstract
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PubReader Background Thyrotoxic periodic paralysis (TPP) is a rare complication of thyrotoxicosis characterized by acute attacks of muscle weakness and hypokalemia. Recently, variation in several genes was suggested to be associated with TPP. This study evaluated the genetic predisposition to TPP in terms of the β2-adrenergic receptor (
ADRB2 ), androgen receptor (AR ), and γ-aminobutyric acid receptor α3 subunit (GABRA3 ) genes.Methods This study enrolled 48 men with Graves disease (GD) and TPP, and 48 GD patients without TPP. We compared the frequencies of candidate polymorphisms between the two groups.
Results The frequency of the Gly16/Gly16 genotype in
ADRB2 was not significantly associated with TPP (P =0.32). More CAG repeats (≥26) in theAR gene were not correlated with TPP (odds ratio [OR], 2.46; 95% confidence interval [CI], 0.81 to 8.09;P =0.08). The allele frequency of the TT genotype in theGABRA3 gene was not associated with TPP (OR, 1.83; 95% CI, 0.54 to 6.74;P =0.41).Conclusion The polymorphisms in the
ADRB2 ,AR , andGABRA3 genes could not explain the genetic susceptibility to TPP in Korean men with GD.-
Citations
Citations to this article as recorded by
- RNASET2,GPR174, and PTPN22 gene polymorphisms are related to the risk of liver damage associated with the hyperthyroidism in patients with Graves’ disease
Qing Zhang, Shaozheng Liu, Yanxing Guan, Qingjie Chen, Qing Zhang, Xiang Min
Journal of Clinical Laboratory Analysis.2018;[Epub] CrossRef - Articles inEndocrinology and Metabolismin 2016
Won-Young Lee
Endocrinology and Metabolism.2017; 32(1): 62. CrossRef - Periodic Paralysis and Encephalopathy as Initial Manifestations of Graves’ Disease
Theocharis Tsironis, Athanasios Tychalas, Dimitrios Kiourtidis, Jannis Kountouras, Georgia Xiromerisiou, Jobst Rudolf, Georgia Deretzi
The Neurologist.2017; 22(4): 134. CrossRef - Thyrotoxic periodic paralysis
Zdeněk Doležel, Dana Novotná, Helena Schneiderová, Jan Papež, Martin Jouza
Pediatrie pro praxi.2016; 17(6): 379. CrossRef
- RNASET2,GPR174, and PTPN22 gene polymorphisms are related to the risk of liver damage associated with the hyperthyroidism in patients with Graves’ disease
Case Report
- Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia
- Sung Won Lee, Dong Shin Kwak, In Sub Jung, Joo Hee Kwak, Jung Hwan Park, Sang Mo Hong, Chang Bum Lee, Yong Soo Park, Dong Sun Kim, Woong Hwan Choi, You Hern Ahn
- Endocrinol Metab. 2015;30(2):226-230. Published online June 30, 2015
- DOI: https://doi.org/10.3803/EnM.2015.30.2.226
- 6,937 View
- 72 Download
- 6 Web of Science
- 7 Crossref
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Abstract
PDFPubReader
Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.
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Citations
Citations to this article as recorded by- A case of mild partial androgen insensitivity syndrome in a juvenile boy
Fen Wang, Shiying Shao, Wentao He, Shuhong Hu
Journal of International Medical Research.2024;[Epub] CrossRef - Gynecomastia in adolescent males: current understanding of its etiology, pathophysiology, diagnosis, and treatment
Kotb Abbass Metwalley, Hekma Saad Farghaly
Annals of Pediatric Endocrinology & Metabolism.2024; 29(2): 75. CrossRef - Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes
Nae-yun Lee, Ja Hye Kim, Ji-Hee Yoon, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Annals of Pediatric Endocrinology & Metabolism.2023; 28(3): 184. CrossRef - The Impact and Management of Gynaecomastia in Klinefelter Syndrome
Amr Abdel Raheem, Ahmed Said Zaghloul, Ahmed M. G. Sadek, Bilal Rayes, Tarek M. Abdel-Raheem
Frontiers in Reproductive Health.2021;[Epub] CrossRef - Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis
Yajie Peng, Hui Zhu, Bing Han, Yue Xu, Xuemeng Liu, Huaidong Song, Jie Qiao
Frontiers in Endocrinology.2021;[Epub] CrossRef - Adolescent Gynecomastia due to Minimal Androgen Resistance Syndrome: A Case Report and Literature Review
Aureliano Fiorini, Margherita Sepich, Margherita Pontrelli, Giorgio Sangriso, Mirna Cosci o Di Coscio, Marcella Lauletta, Fulvia Baldinotti, Diego Peroni, Maria Rosaria Ambrosio, Silvano Bertelloni
Sexual Development.2020; 14(1-6): 21. CrossRef - Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia
F. Paris, L. Gaspari, F. Mbou, P. Philibert, F. Audran, Y. Morel, A. Biason‐Lauber, C. Sultan
Andrology.2016; 4(2): 263. CrossRef
- A case of mild partial androgen insensitivity syndrome in a juvenile boy
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