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Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia

  • Yasemin Düzçeker , Melis Pehlivantürk-Kızılkan , Sinem Akgül , Rıza Köksal Özgül , Nuray Kanbur and Orhan Derman
Published/Copyright: December 23, 2021
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 35 Issue 3

Abstract

Objectives

Androgen receptor gene CAG repeat, AR (CAG)n, polymorphism is thought to have an effect on male reproductive functions and a relationship between long AR (CAG)n and decreased androgenic activity has been shown. Therefore, we hypothesized that in adolescents with long AR CAG repeat the prevalence of pubertal gynecomastia (PG) will be higher and we aimed to investigate the association between AR (CAG)n polymorphism and PG in Turkish adolescents.

Methods

Adolescents with PG between 11 and 19 years of age were enrolled as the study group and healthy individuals without a history of PG, who were at least 14 years of age and Tanner 4 or 5 were enrolled as the control group. The AR (CAG)n length was detected by direct DNA sequencing analysis and reproductive hormones were measured by standardized analyses.

Results

The mean AR (CAG)n was 22.3 ± 2.6 (mean ± SD) in the PG group (n=101) and 21.9 ± 3.1 (mean ± SD) in the control group (n=88) (p=0.276). The adolescents with short AR (CAG)n had lower body mass index standard deviation scores (BMI SDS) compared to the adolescents with intermediate and long repeat numbers (p=0.029).

Conclusions

The results of this study showed a lack of direct association between AR (CAG)n and PG. However, the significant relationship between the AR (CAG)n quartiles and BMI SDS suggests that long AR (CAG)n might cause PG indirectly. Further studies are needed to better clarify this relationship.

Keywords: androgen receptor; AR gene CAG repeat polymorphism; genetic polymorphism; gynecomastia; pubertal gynecomastia
Corresponding author: Yasemin Düzçeker, MD, PhD, Department of Pediatrics, Division of Adolescent Medicine, Hacettepe University Faculty of Medicine, Gevher Nesibe Cd., Ankara, 06230, Turkey, Phone: +90 312 3051160, +90 544 5074508, E-mail:

Funding source: Hacettepe University Scientific Research Projects Coordination Unit

Award Identifier / Grant number: 16383

Acknowledgements

We would like to acknowledge the critical review of this study by Associate Prof. Dr. Hüseyin Demirbilek, MD, Prof. Dr. Ayfer Alikaşifoğlu, MD, and Associate Prof. Dr. Mehmet Karaca and express our great appreciation for their valuable constructive suggestions.

  1. Research funding: This work was supported by the Hacettepe University Scientific Research Projects Coordination Unit (Project number: 16383).

  2. Author contributions: Yasemin Düzçeker: Conceptualization, Methodology, Data collection, Writing- Original draft preparation. Melis Pehlivantürk-Kızılkan: Data collection, English Language translation, Writing- Reviewing and Editing. Sinem Akgül: Conceptualization, Writing- Reviewing and Editing, English Language editing. Rıza Köksal Özgül: Conceptualization, Methodology, Genetic analysis, Supervision, Writing- Reviewing and Editing. Nuray Kanbur: Conceptualization, Methodology, Supervision, Writing- Reviewing and Editing. Orhan Derman: Conceptualization, Methodology, Supervision, Writing- Reviewing and Editing. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The local Institutional Review Board deemed the study exempt from review.

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Received: 2021-06-29
Accepted: 2021-12-01
Published Online: 2021-12-23
Published in Print: 2022-03-28

© 2021 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Review Article
  3. Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management
  4. Original Articles
  5. Weight changes of children in 1 year during COVID-19 pandemic
  6. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
  7. Rates of adrenal insufficiency using a monoclonal vs. polyclonal cortisol assay
  8. Hyperinsulinemic hypoglycemia in growth restricted convalescent preterm neonates: clinical characteristics and impediments to early diagnosis
  9. Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
  10. The prevalence of incidental finding of gynecomastia on thoracic computed tomography in the pediatric age group
  11. The prevalence of hypertension and elevated blood pressure and its correlation with overweight/obesity among students aged 6–17 years in Suzhou
  12. Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia
  13. A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta
  14. A 10-year retrospective single-center study of alpha-fetoprotein and beta-human chorionic gonadotropin in Romanian children with (para)gonadal tumors and cysts
  15. Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan
  16. Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
  17. Short Communication
  18. Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain
  19. Case Reports
  20. 3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients
  21. The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome
  22. Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
  23. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis
https://doi.org/10.1515/jpem-2021-0441
Keywords for this article
androgen receptor; AR gene CAG repeat polymorphism; genetic polymorphism; gynecomastia; pubertal gynecomastia

Articles in the same Issue

  1. Frontmatter
  2. Review Article
  3. Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management
  4. Original Articles
  5. Weight changes of children in 1 year during COVID-19 pandemic
  6. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
  7. Rates of adrenal insufficiency using a monoclonal vs. polyclonal cortisol assay
  8. Hyperinsulinemic hypoglycemia in growth restricted convalescent preterm neonates: clinical characteristics and impediments to early diagnosis
  9. Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
  10. The prevalence of incidental finding of gynecomastia on thoracic computed tomography in the pediatric age group
  11. The prevalence of hypertension and elevated blood pressure and its correlation with overweight/obesity among students aged 6–17 years in Suzhou
  12. Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia
  13. A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta
  14. A 10-year retrospective single-center study of alpha-fetoprotein and beta-human chorionic gonadotropin in Romanian children with (para)gonadal tumors and cysts
  15. Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan
  16. Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
  17. Short Communication
  18. Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain
  19. Case Reports
  20. 3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients
  21. The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome
  22. Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
  23. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis
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