Endocrinology and Metabolism

Original Article

Androgen Receptor Gene CAG Repeat Polymorphism and Effect of Testosterone Therapy in Hypogonadal Men in Korea.: Min Joo Kim, Jin Taek Kim, Sun Wook Cho, Sang Wan Kim, Chan Soo Shin, Kyong Soo Park, Seong Yeon Kim; Endocrinol Metab. 2011;26(3):225-231. Published online September 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.3.225

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BACKGROUND
As the number of CAG repeats in the androgen receptor (AR) gene increases, transcriptional activities decrease and the effects of testosterone decline. In this study, we evaluated the importance of the CAG repeat polymorphism in regard to the effect/safety of testosterone therapy in hypogonadal Korean men. METHODS: The number of CAG repeats was determined in 42 hypogonadal men who underwent testosterone therapy for more than 24 months between December 1999 and August 2007. Body mass index, lean body mass, body fat, bone mineral density, type I collagen N-telopeptide (NTx), osteocalcin, lipid profile, hematocrit and PSA levels prior to and after 24 months of testosterone therapy were identified in our medical record review. RESULTS: Twenty-four months of testosterone therapy increased lean body mass, hematocrit, and PSA levels and reduced body fat, NTx, and HDL cholesterol levels. The mean number of CAG repeats in the AR gene was 23 +/- 3 (range, 15-29) in hypogonadal Korean men. The number of CAG repeats was not found to be associated with changes in lean body mass, body fat, NTx, HDL cholesterol, hematocrit, or PSA levels during testosterone therapy. CONCLUSIONS: No association between the number of CAG repeats in the AR gene and the effect/safety of testosterone therapy was detected in hypogonadal Korean men.

Citations

Citations to this article as recorded by

Androgen Receptor CAG Repeat Length as a Risk Factor of Late-Onset Hypogonadism in a Korean Male Population
Jong Wook Kim, Young Dae Bae, Sun Tae Ahn, Jin Wook Kim, Je Jong Kim, Du Geon Moon
Sexual Medicine.2018; 6(3): 203. CrossRef
Positive Correlation between Androgen Receptor CAG Repeat Length and Metabolic Syndrome in a Korean Male Population
Jong Wook Kim, Young Dae Bae, Sun Tae Ahn, Jin Wook Kim, Je Jong Kim, Du Geon Moon
The World Journal of Men's Health.2018; 36(1): 73. CrossRef
Genome-Based Approaches in Endocrinology and Metabolism: From Clinical and Research Aspects
Sihoon Lee
Endocrinology and Metabolism.2011; 26(3): 208. CrossRef

Case Report

A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene.: Jun Mo Sung, Hyung Young Yoon, Hyon J Kim, Mi Ran Kim, Tae Hi Lee, Hee Jae Joo, Won Il Park, Yoon Sok Chung; J Korean Endocr Soc. 2008;23(4):277-283. Published online August 1, 2008; DOI: https://doi.org/10.3803/jkes.2008.23.4.277

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Abstract PDF: Androgen insensitivity syndrome (AIS) is a hereditary disorder that's characterized by the female phenotype in spite of the 46, XY karyotype, and this is caused by mutation of the androgen receptor gene. We experienced a case of the complete type of AIS. A 20-yr-old woman was evaluated for primary amenorrhea. The patient had external genitalia of the female phenotype, but she had no ovaries or uterus. The abdominal computed tomography scan revealed suspected testes in the pelvic cavity. The chromosome analysis was reported as 46, XY. We identified an androgen receptor gene novel mutation, including CAT deletion at the position 1925~1927 and AG deletion at the position 2129~2130 of exon 5, in both the proband and her sister. The patient underwent laparoscopic gonadectomy due to the possibility of malignant tumor developing in the testes. The subject is now on estrogen supplementation and she is under regular follow-up; she is in a good condition.

Original Article

CAG Repeats in the Androgen Receptor Polymorphism do not Correlate with Thyrotoxic Periodic Paralysis.: Won Gu Kim, Tae Yong Kim, Jung Min Kim, Yoon Soo Rhee, Hyun Jeung Choi, Won Bae Kim, Young Kee Shong; J Korean Endocr Soc. 2008;23(2):117-122. Published online April 1, 2008; DOI: https://doi.org/10.3803/jkes.2008.23.2.117

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Abstract PDF

BACKGROUND
Thyrotoxic periodic paralysis (TPP) occurs mostly in males, but no studies have addressed the role of androgen in the disease. Hyperinsulinemia can precipitate acute paralysis in TPP patients. CAG repeats in the androgen receptor (AR), an X-linked gene, correlate with serum insulin levels. AIM: To evaluate whether CAG repeats in the AR gene might predict the susceptibility to TPP in Korean male Graves' patients. METHODS: We evaluated CAG repeat length in a series of 33 male TPP patients and 48 control patients by direct sequencing of the PCR product of the AR promoter site. Control patients were male Graves' patients without a history of paralysis. RESULTS: The CAG repeat length varied from 15 to 34 (median of 23). The upper quartile of CAG length was equal to or above 26 repeats (long AR). The distribution of long AR was 0.30 in TPP and 0.15 in control patients, respectively (odds ratio, 2.51; 95% confidence interval, 0.92~6.85; P = 0.09). CONCLUSION: AR gene polymorphisms may not confer genetic susceptibility to TPP in Korean male patients with Graves' disease.

Citations

Citations to this article as recorded by

Contributions of CAG repeat length in the androgen receptor gene and androgen profiles to premature pubarche in Korean girls
Min Jae Kang, Jeong Seon Lee, Hwa Young Kim, Hae Woon Jung, Young Ah Lee, Sun Hee Lee, Ji-Young Seo, Jae Hyun Kim, Hye Rim Chung, Se Young Kim, Choong Ho Shin, Sei Won Yang
Endocrine Journal.2017; 64(1): 91. CrossRef
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
Endocrinology and Metabolism.2016; 31(1): 142. CrossRef
Androgen Receptor Gene CAG Repeat Polymorphism and Effect of Testosterone Therapy in Hypogonadal Men in Korea
Min Joo Kim, Jin Taek Kim, Sun Wook Cho, Sang Wan Kim, Chan Soo Shin, Kyong Soo Park, Seong Yeon Kim
Endocrinology and Metabolism.2011; 26(3): 225. CrossRef

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