Anogenital distance as a phenotypic signature through infancy

BACKGROUND: Anogenital distance (AGD) has been suggested to represent a phenotypic signature reflecting in utero androgen action. However, it is not known whether an individual's AGD at birth correlates to the AGD later in life. We investigate correlations of AGD between 3 and 18 months of age and assess reproducibility of measurements. METHODS: We measured AGD from anus to scrotum (AGDas) and to penis (AGDap) in 407 boys, and to posterior fourchette (AGDaf) and clitoris (AGDac) in 282 girls. Each measure was repeated three times at 3 and 18 months of age, and some children were, furthermore, examined by two different examiners. We assessed age-related changes and reproducibility of measurements. RESULTS: AGD increased between the two examinations and correlated within the child. A large proportion of the observed variation in AGD was due to true differences between the children (AGDas: 62%, AGDap: 40%, AGDaf: 30%, AGDac: 21%), and measurement error due to between- and within-examiner variation was low. CONCLUSIONS: Our study showed that measures of AGD within a child correlated during infancy, especially in boys and particularly for AGD measured as the distance between anus and scrotum. A planned cohort follow-up through childhood and puberty will reveal whether AGD represents a phenotypic signature throughout life.