Estimating familial and genetic contributions to variability in human testicular function: a pilot twin study

The biological basis for the remarkably wide variation in sperm output between and within men remains unclear. Although some contributing factors have been identified, the familial and genetic contributions to variation in human sperm output have been little studied, although such sources of variation are known to be significant in experimental animals. In order to identify such familial and genetic factors in a classical twin study design, we recruited monozygotic and dizygotic twins aiming to study the degree of resemblance between genetically identical and non-identical twins in sperm output, testis size and testicular endocrine function. From an approach to 160 twin pairs on the Australian Twin Register database, eventually 17 pairs of male twins (11 monozygotic and six dizygotic) participated in this study. Sperm concentration and output, right testis size and SHBG all exhibited a strong familial effect but a genetic component could not be confirmed. Total and free testosterone exhibited a genetic component. Although identifying for the first time a clear familial component to normal human spermatogenesis, this study had insufficient power to determine whether there was a genetic component, nor could its design distinguish between genetic or shared (early) environmental determinants for these familial effects. Implications for future twin studies of human testicular function including stronger recruitment strategies, multicentre studies and surrogate variables for human spermatogenesis are suggested.