Irreversible Causes of Male Infertility
Kline felter's syndrome is the most common abnormality of sexual differentiation, and occurs in approximately 1 in 500 live births. It is one of the most common causes of primary hypogonadism, and is the most common sex chromosome abnormality seen in infertile men. Patients will present with a typical triad of small, firm testes; gynecomastia; and elevated urine gonadotropins. Variants of Klinefelter's may also result in increased height, diabetes mellitus, obesity, and decreased intelligence. The infertility evaluation may be the first time the patient has a complete physical examination as an adult.
During the history, patients may describe the delayed completion of puberty and delayed virilization. There are usually few physical complaints associated with Klinefelter's syndrome. There will be a lack of development of secondary sexual characteristics on physical examination (atrophic [< 2.0 cm] testes, small phallus, diminished body hair, diminished muscle bulk), and a feminine, or truncal, rather than male, fat distribution that often includes gynecomastia. Patients may be tall, due to a delay in the fusion of the epiphyseal plates in the long bones.
Clinical suspicion after the physical examination will usually lead to a karyotype analysis, which will show 47, XXY or a mosaic pattern such as 46, XY/47, XXY, indicating a diagnosis of Klinefelter's syndrome. Serum hormone studies will demonstrate a decreased or normal testosterone, decreased free testosterone, elevated estradiol, normal or elevated LH, and elevated FSH.
Treatment for infertility in the patient with Klinefelter's can take a variety of forms (see Table 7 ). It is only recently, with the advent of the microTESE (microsurgical testicular extraction) procedure, that patients diagnosed with Klinefelter's syndrome were given the potential to father genetic offspring via microTESE and ICSI (intracytoplasmic sperm injection).
Congenital bilateral absence of the vas deferens is a genetic abnormality that is seen with cystic fibrosis (CF) and its multiple variants. If not previously diagnosed with cystic fibrosis, the patient may have one of the less-severe CF mutations, and report a history of chronic bronchitis that may have required hospitalization, recurrent respiratory infections as a child and adolescent, asthma or an asthma-like condition, or even have no symptoms at all (most common). There are usually no other physical complaints; but there may be a family history of infertility or persistent respiratory illnesses.
Males with CF frequently demonstrate malformation of the epididymis. The vas deferens, seminal vesicles, and ejaculatory ducts are generally atrophic or absent. Physical examination may show complete absence of the vas deferens unilaterally or bilaterally, or a palpable gap in the vas deferens. Testosterone levels in these patients will be normal. Spermatogenesis is usually normal as well, and so testes size and consistency are normal, with the patient describing normal libido and demonstrating appropriate secondary sexual characteristics. It is possible that the patient may have a much more rare unilateral absence of the vas deferens, which is usually associated with Wolffian duct abnormalities and renal malformations.
The physical examination and history are sufficient to confirm a suspicion of CF; the patient will be sent for karyotype analysis and CF testing. The couple will be sent to a genetics clinic for additional counseling and testing. Males with CF have the option to sire genetic offspring via testicular aspiration and IVF.
Approximately 80% of spinal cord injured (SCI) men will demonstrate some preservation of their erectile function (Schuster & Ohl, 2002). Men with a T9 level injury or above can have reflex erections that do not persist long enough or are reliable for sexual activity. In men who have suffered lower motor neuron injuries (below T9), erectile activity is absent.
Ejaculatory function in men with SCI is a separate challenge. Only 5% to 15% of men will have any evidence of ejaculation after their injury (Biering-Sørensen & Sønksen, 2001) and this represents a major aspect contributing to infertility. This is complicated further by a significant decline in overall sperm quality. Sperm obtained from men who are unable to ejaculate demonstrate a variety of abnormalities that include significantly decreased motility and viability, decreased ability to penetrate cervical mucus, and decreased fertilizing capability. Only 5% of men with SCI will be able to initiate a pregnancy without some degree of medical intervention (Schuster & Ohl, 2002).
Surgical procedures in the pelvis or retroperiteneum can result in neurogenic impairment of the ejaculatory process by damaging peripheral nerves. This can manifest as an incompetent bladder neck and retrograde ejaculation, or total anejaculation. Men with testis cancer, in particular, are at risk for this type of injury with a RPLND. Men who suffer from surgically induced anejaculation will experience decreases to their semen quality similar to that of men with SCI.
Anejaculatory men can still father their own children; both penile vibratory stimulation (PVS) or electroejaculation (EEJ) are successful options for specific groups of patients and allows the possibility for IUI (see Table 8 ). Alternatively, anejaculatory men have the option to proceed with testes aspiration and IVF.
Some men will demonstrate antisperm antibodies that are associated with their sperm. These can be antibodies that are attached to the head, tail, or all parts of the sperm, and their presence inhibits the fertilizing ability of the sperm. It is unclear precisely why these antibodies form, but it can be the result of vasectomy and reversal, testis injury or infection, or cancer; it can also be idiopathic. Past attempts at treatment of this condition with such medications as corticosteroids have met with little success. These particular patients can be treated with IUI (low success) or IVF with ICSI.
There are other less-commonly seen genetic causes of male infertility that include conditions such as Kallman's syndrome, Y-chromosome microdeletions, various neuromuscular conditions, immotile cilia syndromesm and Kartagener's syndrome. Depending on sperm counts, these patients can be offered sperm aspiration with IVF or IVF and ICSI.
Urol Nurs. 2006;26(4):277-288. © 2006 Society of Urologic Nurses and Associates
Cite this: Examining Male Infertility - Medscape - Aug 01, 2006.