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

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.

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Cag Repeat Number in Androgen Receptor Gene and Male Infertility

Balkan Journal of Medical Genetics ◽

10.2478/v10034-007-0003-8 ◽

2007 ◽

Vol 10 (1) ◽

pp. 19-24 ◽

Cited By ~ 3

Author(s):

T Plaseski ◽

P Noveski ◽

C Dimitrovski ◽

B Kocevska ◽

G Efremov ◽

...

Keyword(s):

Androgen Receptor ◽

Male Infertility ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Cag Repeat ◽

Cag Repeats ◽

Control Group ◽

Repeat Number ◽

Number Of Patients ◽

Exon 1

Cag Repeat Number in Androgen Receptor Gene and Male InfertilityAndrogens are essential for male sexual development and for fertility. They exert their action through the androgen receptor (AR), a ligandactivated transcription factor. The 5' end of exon 1 of the AR gene includes a polymorphic CAG triplet repeat that varies in number between 10 to 36 in the normal population. There is controversy over an association between high CAG repeat numbers in the AR gene and male infertility. We have evaluated the possible effect of long CAG repeats in the AR on infertility in men from the Republic of Macedonia (R. Macedonia). A group of 222 infertile/subfertile males with different sperm counts and a control group of 152 proven fathers were studied. The CAG repeat number was determined by fluorescent polymerase chain reaction (PCR) amplification of exon 1 of the AR gene analyzed by capillary electrophoresis. Mean CAG length did not differ significantly between males with azoospermia (22.0 ± 3.1), mild oligozoospermia (22.4 ± 2.6), severe oligozoospermia (23.0 ± 4.2), normozoospermia (21.8 ± 2.4), or known causes of infertility (22.1 ± 2.9) and fertile controls (22.3 ± 2.9). However, we found a significantly higher percentage of CAG repeats >26 (p = 0.022), >27 (p = 0.018) and >28 (p = 0.009) in males with mild oligozoospermia. These results indicate a possible association between CAG repeat length and mild oligozoospermia. Further studies on a larger number of patients with mild oligozoospermia are warranted to confirm this association.

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The CAG Repeat Within the Androgen Receptor Gene and Benign Prostatic Hyperplasia

The Journal of Urology ◽

10.1097/00005392-199907000-00090 ◽

1999 ◽

Vol 162 (1) ◽

pp. 269-270

Author(s):

E. Giovannucci ◽

E.A. Platz ◽

M.J. Stampfer ◽

A. Chan ◽

K. Krithivas ◽

...

Keyword(s):

Androgen Receptor ◽

Benign Prostatic Hyperplasia ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Prostatic Hyperplasia ◽

Cag Repeat

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Association Between Androgen Receptor Gene CAG Repeat Polymorphism and Plasma Testosterone Levels in Postmenopausal Women

Journal of the Society for Gynecologic Investigation ◽

10.1016/j.jsgi.2004.11.003 ◽

2005 ◽

Vol 12 (2) ◽

pp. 135-141 ◽

Cited By ~ 29

Author(s):

Ilma Simoni Brum ◽

Poli Mara Spritzer ◽

Franyoise Paris ◽

Maria Augusta Maturana ◽

Franyoise Audran ◽

...

Keyword(s):

Androgen Receptor ◽

Postmenopausal Women ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Cag Repeat ◽

Plasma Testosterone ◽

Repeat Polymorphism ◽

Testosterone Levels

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The GGN and CAG repeat polymorphisms in the exon-1 of the androgen receptor gene are, respectively, associated with insulin resistance in men and with dyslipidemia in women

The Journal of Steroid Biochemistry and Molecular Biology ◽

10.1016/j.jsbmb.2008.12.009 ◽

2009 ◽

Vol 113 (3-5) ◽

pp. 202-208 ◽

Cited By ~ 14

Author(s):

Germán Rodríguez-González ◽

Raquel Ramírez-Moreno ◽

Patricia Pérez ◽

Cristina Bilbao ◽

Laura López-Ríos ◽

...

Keyword(s):

Insulin Resistance ◽

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Cag Repeat ◽

Exon 1

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Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-18-0128 ◽

2018 ◽

Vol 2018 ◽

Cited By ~ 1

Author(s):

Priya Vaidyanathan ◽

Paul Kaplowitz

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

List Type ◽

Androgen Insensitivity ◽

Estrogen Production ◽

Partial Androgen Insensitivity Syndrome ◽

Pubertal Gynecomastia

Summary Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1–2 years and requires no treatment. However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. These can be due to diminished androgen production, increased estrogen production or androgen resistance. We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene. Learning points: Laboratory testing of follicle-stimulating hormone (FSH), leutinizing hormone (LH) and testosterone for pubertal gynecomastia is most helpful in the setting of undervirization. The hormonal finding of very high testosterone, elevated LH and estradiol and relatively normal FSH are classical findings of PAIS. Gynecomastia due to PAIS will not resolve and surgery for breast reduction should be recommended.

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Hypospadiasis előfordulása öt fivérben

Orvosi Hetilap ◽

10.1556/650.2015.30230 ◽

2015 ◽

Vol 156 (33) ◽

pp. 1348-1352

Author(s):

Stelios Mavrogenis ◽

Endre Czeizel

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Cag Repeat ◽

Coding Region ◽

Mild Form ◽

Normal Range ◽

Familial Cluster ◽

Genetic Institute

The healthy couple had five sons with hypospadias (glandular 1, coronal 4) without other child. Similar familial cluster has not reported in the sons of European parents without consanguinity. Mild form androgen insensitivity syndrome was expected in these 5 boys because of the X-linked androgen receptor gene, however, sequencing of the entire coding region (exons 1-8) and all intron-exon boundaries of the androgen receptor gene did not reveal abnormality and the CAG repeat was found in the normal range (21 repeats). This extreme familial cluster may help us to elucidate gene polymorphisms in the polygenic background of the multifactorial origin of isolated hypospadias. Therefore, the authors collaborate with a genetic institute in Pittsburg, USA to perform whole genome sequencing in these probands and their parents. Orv. Hetil., 2015, 156(33), 1348–1352.

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