Androgen-dependent measurements of female genitalia in women with complete androgen insensitivity syndrome

Crouch, NS; Michala, Lina; Creighton, SM; Conway, GS

doi:10.1111/j.1471-0528.2010.02778.x

Cited by 11 publications

(6 citation statements)

References 6 publications

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“…No data are available for AGD in women with CAIS using the commonly used method of measurement discussed in this review. However, in a heterogenous group of 19 women with a clinical diagnosis of CAIS examined during a routine clinic visit, clitoral length was reduced but the clitoral to urethral distance (measured from the base of the clitoris to the anterior aspect of the external urethral meatus) was similar to a control group of women undergoing a gynaecological examination under anaesthesia (Crouch et al, 2011). It is not clear whether the segment of perineum represented by this measurement truly reflects the AGD parameter which is accepted as being androgen dependent in both animal models and humans.…”

Section: Disorders Of Sex Development (Dsd)mentioning

confidence: 94%

Anogenital distance as a marker of androgen exposure in humans

et al. 2016

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SUMMARYAbnormal foetal testis development has been proposed to underlie common disorders of the male reproductive system such as cryptorchidism, hypospadias, reduced semen quality and testicular germ cell tumour, which are regarded as components of a 'testicular dysgenesis syndrome'. The increasing trends and geographical variation in their incidence have been suggested to result from in utero exposure to environmental chemicals acting as endocrine disruptors. In rodents, the anogenital distance (AGD), measured from the anus to the base of genital tubercle, is a sensitive biomarker of androgen exposure during a critical embryonic window of testis development. In humans, several epidemiological studies have shown alterations in AGD associated with prenatal exposure to several chemicals with potential endocrine disrupting activity. However, the link between AGD and androgen exposure in humans is not well-defined. This review focuses on the current evidence for such a relationship. As in rodents, a clear gender difference is detected during foetal development of the AGD in humans which is maintained thereafter. Reduced AGD in association with clinically relevant outcomes of potential environmental exposures, such as cryptorchidism or hypospadias, is in keeping with AGD as a marker of foetal testicular function. Furthermore, AGD may reflect variations in prenatal androgen exposure in healthy children as shorter AGD at birth is associated with reduced masculine play behaviour in preschool boys. Several studies provide evidence linking shorter AGD with lower fertility, semen quality and testosterone levels in selected groups of adults attending andrology clinics. Overall, the observational data in humans are consistent with experimental studies in animals and support the use of AGD as a biomarker of foetal androgen exposure. Future studies evaluating AGD in relation to reproductive hormones in both infants and adults, and to gene polymorphisms, will help to further delineate the effect of prenatal and postnatal androgen exposures on AGD.

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Section: Disorders Of Sex Development (Dsd)mentioning

confidence: 94%

Anogenital distance as a marker of androgen exposure in humans

et al. 2016

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“…86 Clitoral length is shorter in CAIS women, presumably reflecting the lack of prenatal and postnatal androgen action. 87 Magnetic resonance imaging (MRI) can be more informative than physical examination in delineating genital anatomy in CAIS. 88 Loss of fertility is a major issue for many women with CAIS.…”

Section: Complete Androgen Insensitivity Syndromementioning

confidence: 99%

Androgen Insensitivity Syndrome

et al. 2012

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The androgen insensitivity syndromes (AIS) fall within the generic category of 46,XY DSD (disorder of sex development) and present as phenotypes associated with complete or partial resistance to the action of androgens. Three categories are recognized: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), mild androgen insensitivity syndrome (MAIS). The androgen receptor (AR) is encoded by an 8 exon gene on the X chromosome long arm. More than 800 mutations in the AR gene have been reported in AIS patients (www.androgendb.mcgill.ca/). They are distributed throughout the gene with a preponderance located in the ligand binding domain. The most severe mutations are generally associated with a CAIS phenotype, but the correlation is less defined in PAIS. CAIS presents typically as primary amenorrhoea in an adolescent female and less commonly in infancy with bilateral inguinal/labial swellings due to testes. The differential diagnosis in CAIS is limited, whereas in PAIS, numerous other causes of DSD can also produce the typical phenotype of micropenis, severe hypospadias and bifid scrotum. Management issues in CAIS involve timing of gonadectomy, appropriate hormone replacement therapy and assessment of the need for vaginal dilation or rarely, vaginal surgery. The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood. Expert psychological counseling is mandatory to manage the disconnect between chromosomal, gonadal and phenotypic sex and to choreograph the evolving process of disclosure from late childhood through to maturity. It is implicit that management in AIS requires a multidisciplinary team and engagement with patient advocacy groups.

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“…Consistent with rat experimental data, the AGD measured in men was found to be associated with male reproductive health including congenital malformations, testis size, penis length, spermcount/semen quality, testosterone levels, and prostate cancer [4][5][6][7][8][9][10][11]. In women, associations with the AGD were suggested with fertility, clitoris length, adult testosterone levels, ovarian function, endometriosis, polycystic ovary syndrome (PCOS), and pelvic organ prolapse [12][13][14][15][16][17][18][19][20].…”

Section: Introductionmentioning

confidence: 54%

“…Moreover, the CUMD is a part of perineum. The embryogenesis and development of perineum is androgen mediated as evidenced by the larger anogenital distance (AGD) observed in men compared with women [1,2,13]. The CUMD is hopeful as a biomarker of prenatal androgen exposure, and probably equivalent to well-de ned AGD-AC or AGD-AF.…”

Section: Discussionmentioning

confidence: 99%

Clitoris to Urethral Meatus Distance is Not Affected by the Obesity Compared to the Anogenital Distance

Li¹,

Xia²,

Li³

et al. 2021

Preprint

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Background The distance between clitoris and urethral meatus (CUMD) for women has been considered to likely reflect the extent of prenatal androgen exposure, being similar to the anogenital distance (AGD) and the digit length ratio. But no published work has examined the association between the CUMD and the AGD or digit ratio and the effect of body weight on CUMD and AGD.Methods The CUMD and AGD (including AGD-AC, from the anus to the anterior clitoris; AGD-AF, from the anus to the posterior fourchette) measurements for 117 women (18-45 years) were taken using a digital caliper, and the digit ratios were measured from photos by a digital camera. Meanwhile, data of their height, weight, and body mass index (BMI) were collected at same time. Results In bivariate correlation analyses of all 117 subjects, two AGD measurements (AGD-AC and AGD-AF) were moderately correlated with one another (r=0.474, p<0.001), but the correlation between AGD-AC and CUMD was weak (r=0.172, p=0.063). Both AGD-AC and AGD-AF were notably correlated with weight (r=0.290, p=0.002 and r=0.189, p=0.041; respectively) and BMI (r=0.341, p<0.001 and r=0.204, p=0.027; respectively), whereas the CUMD was not affected by weight or BMI. Exclusion of obese individuals, the CUMD of 86 non-overweight subjects was obviously correlated with the AGD-AC (r=0.236, p=0.028). Conclusion These results indicated that the CUMD could be a marker of prenatal androgen exposure without influence of body weight, superior to AGD-AC or AGD-AF.

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Androgen-dependent measurements of female genitalia in women with complete androgen insensitivity syndrome

Cited by 11 publications

References 6 publications

Anogenital distance as a marker of androgen exposure in humans

Anogenital distance as a marker of androgen exposure in humans

Androgen Insensitivity Syndrome

Clitoris to Urethral Meatus Distance is Not Affected by the Obesity Compared to the Anogenital Distance

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