The relationship between anogenital distance and the androgen receptor CAG repeat length

Hsieh, Tung-Chin; Pastuszak, Alexander W.; McIntyre, Matthew; Walters, R. Chanc; Lamb, Dolores J.; Lipshultz, Larry I.

doi:10.1038/aja.2012.126

Cited by 12 publications

(8 citation statements)

References 23 publications

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“…Concerning AGD, we did not found any evidence for a relevant role of AR (CAG)n polymorphism in determining its length. In the literature, only one study evaluated the association between the AR (CAG)n repeats and the AGDs 41 . Although the authors did not found a linear relationship between both parameters, they observed higher frequency of men with short AGD in case of (CAG)n > 26 41 .…”

Section: Discussionmentioning

confidence: 96%

Short anogenital distance is associated with testicular germ cell tumour development

et al. 2020

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Background Testicular germ cell tumour is a multifactorial disease in which various genetic and environmental factors play a role. Testicular germ cell tumour is part of the testicular dysgenesis syndrome which includes also cryptorchidism, hypospadias, oligo/azoospermia and short anogenital distance. Objectives The primary objective was to examine anogenital distance in testicular germ cell tumour cases and healthy fertile controls. The secondary objective was to assess the (CAG)n polymorphism of the Androgen Receptor gene in relationship with anogenital distances and testicular germ cell tumour development. Material and Methods 156 testicular germ cell tumour patients and 110 tumour‐free normozoospermic controls of Spanish origin. All subjects underwent full andrological workup (including semen and hormone analysis) and genetic analysis (Androgen Receptor (CAG)n). The main outcome measures were the anopenile distance (AGDap), the anoscrotal distance (AGDas) and AR(CAG)n. Result We observed significantly shorter anogenital distances in the group of testicular germ cell tumour patients in respect to controls (P < .001) independently from sperm count and testis histology. Threshold values, applicable only to our cohort, were calculated for anogenital distances with the best sensitivity and specificity. Subjects with AGDap and AGDas below threshold showed a significantly increased risk for testicular germ cell tumour (OR = 4.97, 95% CI = 2.01‐12.33, P = .001 and OR = 4.11, 95% CI = 1.89‐8.92, P ≤ .001, respectively). No significant correlation was observed between AR(CAG)n polymorphism and anogenital distances. The median values of the AR(CAG)n were similar between cases and controls, excluding a major role for this polymorphism in the etiopathogenesis of these testicular dysgenesis syndrome components. Conclusions Ours is the first study focusing on anogenital distances in testicular germ cell tumour patients. We identified short anogenital distances (which is a surrogate biomarker of androgen action during foetal life) as a significant risk factor for this disease. After further validation of our preliminary data, anogenital distance measurement could become part of testicular germ cell tumour screening in order to better define those individuals who would benefit from long‐term active follow‐up.

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Section: Discussionmentioning

confidence: 96%

Short anogenital distance is associated with testicular germ cell tumour development

et al. 2020

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“…In 2015, a large body of evidence indicated an important role for AR CAG polymorphism in conditioning the peripheral effect of testosterone, even if its contribution warrants further assessment because of the many controversial findings in each androgen-related action. Of note, other associations are emerging (e.g., between anogenital distance and the androgen receptor CAG repeat length [ 106 ]), but they still need further confirmation. We believe that the differing results could be justified in light of the difference in the clinical characteristics of the studied subjects, the methodology (transversal/longitudinal studies), and the number of assessed patients.…”

Section: Discussionmentioning

confidence: 99%

Influence of CAG Repeat Polymorphism on the Targets of Testosterone Action

Tirabassi

Cignarelli

Perrini

et al. 2015

International Journal of Endocrinology

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In the last decade, ample evidence has demonstrated the growing importance of androgen receptor (AR) CAG repeat polymorphism in andrology. This genetic parameter is able to condition the peripheral effects of testosterone and therefore to influence male sexual function and fertility, cardiovascular risk, body composition, bone metabolism, the risk of prostate and testicular cancer, the psychiatric status, and the onset of neurodegenerative disorders. In this review, we extensively discuss the literature data and identify a role for AR CAG repeat polymorphism in conditioning the systemic testosterone effects. In particular, our main purpose was to provide an updated text able to shed light on the many and often contradictory findings reporting an influence of CAG repeat polymorphism on the targets of testosterone action.

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“…However, a closer inspection of the link between CAGn and T-dependent phenotypic traits suggests that normal variability of CAGn has mostly no, very small, or inconsistent effects [for example see Ref. AGD; ( 18 )]. Thus, Hönekopp ( 17 ) concluded that “the lack of a clear correlation between CAGn and 2D:4D has no negative implications for the latter’s validity as a marker of prenatal testosterone effects.”…”

Section: D:4d and Prenatal Testosterone And Estrogenmentioning

confidence: 99%

Digit Ratio (2D:4D): A Biomarker for Prenatal Sex Steroids and Adult Sex Steroids in Challenge Situations

et al. 2014

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Digit ratio (2D:4D) denotes the relative length of the second and fourth digits. This ratio is considered to be a biomarker of the balance between fetal testosterone (T) and estrogen (E) in a narrow window of early ontogeny. Evidence for this assertion is derived from direct and indirect measures of prenatal hormonal exposure (in experimental animals, via amniotic fluid samples and in the study of sex-typical traits) in relation to 2D:4D. In contrast, the relationships between 2D:4D and levels of sex steroids in adults are less clear, as many correlational studies of 2D:4D and adult sex steroids have concluded that this association is statistically non-significant. Here, we suggest that in order to understand the link between 2D:4D and sex hormones, one must consider both fetal organizing and adult activating effects of T and E. In particular, we hypothesize that 2D:4D correlates with organizing effects on the endocrine system that moderate activating effects in adulthood. We argue that this is particularly evident in “challenging” conditions such as aggressive and sexual encounters, in which individuals show increased levels of T. We discuss this refinement of the 2D:4D paradigm in relation to the links between 2D:4D and sports performance, and aggression.

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The relationship between anogenital distance and the androgen receptor CAG repeat length

Cited by 12 publications

References 23 publications

Short anogenital distance is associated with testicular germ cell tumour development

Short anogenital distance is associated with testicular germ cell tumour development

Influence of CAG Repeat Polymorphism on the Targets of Testosterone Action

Digit Ratio (2D:4D): A Biomarker for Prenatal Sex Steroids and Adult Sex Steroids in Challenge Situations

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