Genetics of male infertility.

摘要: Male infertility is a multifactorial pathological condition affecting approximately 7% of the male population. The genetic landscape highly complex as semen and testis histological phenotypes are extremely heterogeneous, at least 2,000 genes involved in spermatogenesis. highest frequency known factors contributing to (25%) azoospermia, but number identified anomalies other aetiological categories constantly growing. Genetic screening relevant for its diagnostic value, clinical decision making, appropriate counselling. Anomalies sex chromosomes have major roles severe spermatogenic impairment. Autosome-linked gene mutations mainly central hypogonadism, monomorphic teratozoospermia or asthenozoospermia, congenital obstructive familial cases quantitative disturbances. Results from whole-genome association studies suggest marginal role common variants causative factors; however, some these can be important pharmacogenetic purposes. on copy variations (CNVs) demonstrate considerably higher CNV load infertile patients than normozoospermic men, whereas whole-exome analysis has proved successful tool infertility. Despite such efforts, aetiology remains unknown about 40% patients, discovery novel idiopathic challenge field androgenetics. Large, international, consortium-based most promising approach missing