Introduction: Infertility is one of commonest disorders to afflict young men and women. The evaluation of infertility is initiated typically after 1 yr of failure to conceive.
Diagnostic evaluation: The couple should be evaluated together to determine whether the problem resides in the male partner, the female partner, or both. The objectives of evaluation are to exclude treatable conditions--gonadotropin deficiency, obstruction, and coital disorders--and identify those who are candidates for assisted reproductive technologies, those who are sterile and should consider adoption or artificial insemination using donor sperm, and those who should undergo genetic screening. All infertile men should undergo several semen analyses according to the World Health Organization manual, as well as measurements of testosterone, LH, and FSH levels. Hormone measurements can help determine whether the patient has gonadotropin deficiency (low testosterone and low or inappropriately normal LH and FSH), primary testicular failure (low testosterone, elevated LH and FSH), spermatogenic failure (normal testosterone and LH, elevated FSH), or androgen resistance (high testosterone, elevated LH). A majority of infertile men have normal testosterone, LH, and FSH levels. Obstruction should be ruled out in azoospermic men with normal testosterone, LH, and FSH levels.
Genetics: Yq microdeletions are the most prevalent cause of spermatogenic failure in men with azoospermia or severe oligozoospermia. Infertile men with azoospermia or severe oligozoospermia should undergo karyotyping and testing for Yq microdeletions. Men with congenital absence of vas should be tested for cystic fibrosis transmembrane conductance regulator mutations.
Therapy: Gonadotropin therapy is highly effective in gonadotropin-deficient men. Intracytoplasmic sperm injection (ICSI) has emerged as the treatment of choice for idiopathic male factor infertility. However, ICSI is expensive and associated with a higher risk of multiple gestation, low birth weight, preterm delivery, perinatal complications, and chromosome aneuploidy than naturally conceived pregnancies. Men considering ICSI should be offered karyotyping, Yq microdeletion testing, and genetic counseling by counselors experienced in reproductive disorders.