Male Factor Infertility: Congenital Abnormalities

Congenital Abnormalities

In some cases, problems that were present at birth can affect a man's fertility. Surgery performed during childhood to correct the abnormalities in the reproductive system can affect fertility as well.

    Related Links

    Male Factor Infertility

    Male Factor Problems



    Sperm Production Problems

    Retrograde Ejaculation


    Endocrine Disorders

    Antisperm Antibodies

    Preventative Medicine

  • Congenital absence of the vas deferens (CAVD)- A rare condition in which the vas deferens, the tube that leads out from the testicle, is absent from birth. Although testicular function is normal, the vas deferens is not present to contribute sperm to the ejaculate. In such cases, sperm can be collected directly from the epididymis and used for IVF with ICSI. Many men with this problem are carriers of the cystic fibrosis gene and should go through genetic testing.
  • Undescended testes- This condition is called cryptorchidism, is the absence at birth of one or both testes. If the testes do not descend by the child's first birthday, the condition is treated surgically. If left untreated the testes can shrivel and lead to infertility and an increased risk of testicular cancer.
  • Hyposadias- This affects approximately 1 in 500 newborns. This condition is when the urethral opening is not in its normal position at the tip of the penis. Hypospadias can be treated surgically if the condition is severe and the penis is deformed. However, mild cases may go untreated and affect fertility later on.
  • Kallmann's syndrome- This is a failure of the hypothalamus that results in lack of the essential hormone GnRH (gonadotropin-releasing hormone) for sperm production.
  • Kleinfelter's syndrome- This condition occurs when an extra x chromosome is present. It results in the individual having small, poorly functioning testes, and azoospermia.
  • Sertoli-cell only syndrome- A condition, which is indicated by the absence of germ cells (sperm producing cells).

Kleinfelter's syndrome and Steroli-cell only syndrome have no known medical treatment unless sperm can be identified and extracted for use in IVF with ICSI.