Testicular Descent |
Testicular Cells |
Maturation of Sperm |
Case: A newborn male baby has undescended testes on examination. Otherwise, the physical examination is unremarkable.
Question: Should surgery be planned for this male baby?
Answer: Not immediately.
Most undescended testes will spontaneously descend into the scrotal sac within the first year of life. My understanding is that most pediatricians and pediatric surgeons currently (2002) suggest waiting for about 2 years prior to suggesting surgical treatment options.
The risk of future impairment in fertility is indirectly related to the length of time that the testes remain undescended. While there is a strong desire to avoid surgery in these infants, if the testes remain undescended beyond 2 years of age there appears to be a coincident decrease in likelihood that the testes will spontaneously descend and an increase in likelihood that there will be a lifelong reduction in sperm production and quality within the testes.
Case: 28 year old male with a history of azoospermia, bilaterally undescended testes that were surgically treated (orchiopexy) at 9 years of age, and a desire to complete an evaluation for the lack of sperm within the semen (azoospermia).
Question: Should an evaluation for azoospermia be considered given this patient's clinical history?
The surgical (orchiopexy) procedure was performed to free the testes and reimplant them into the scrotal sac. This surgery had been successfully performed when this man was 9 years old. There is a relatively high probability that the prolonged period of time (9 years) that the testes remained in the "less favorable" environment outside of the scrotal sac resulted in a significant impairment in subsequent testicular function.
This patient's azoospermia may be the result of a treatable condition that is not related to the man's history of undescended testes. If a (treatable) condition is identified and treated, then this man has a chance to achieve his family goals using his own sperm.
Case: 26 year old male with subfertility is found to have azoospermia (a complete absence of sperm within the semen) on semen analysis. During the clinical evaluation, a testicular biopsy is performed and the only abnormality seen is that the seminiferous tubules are found to be completely devoid of sperm cells or gonocytes.
Question: What does this signify and what can be done in this situation?
The "Sertoli Only Syndrome" exists when there is an absence of sperm cells or primitive gonocytes within the seminiferous tubules, such that the tubules are comprised of only Sertoli cells. In this situation, the circulating concentrations of FSH, LH and Testosterone may be normal and the size of the testes may be normal.
I am not aware of an effective treatment for Sertoli Only Syndrome since there are no sperm cells or sperm precursor cells. In this situation, donor sperm should be considered.
Case: 35 year old male with a history of subfertility, bilaterally small testes (measuring about 12-15 mL each), a circulating FSH concentration that is 3 times greater than top normal values (for the assay system that was used), an elevated LH concentration, a suppressed total testosterone concentration, and azoospermia (complete absence of sperm within the semen).
What testing would be helpful in this situation?
The testes are comprised largely of seminiferous tubules (about 85-90% of total testicular volume is due to the seminiferous tubules) so that when there is a marked reduction in overall testicular size this often signifies a marked reduction in the existing number of seminiferous tubules (containing the sperm).
The Sertoli cells within the seminiferous tubules normally produce a hormone called "inhibin" which suppresses circulating FSH concentrations to within the normal limits. If there is a marked increase in circulating FSH, this most often reflects a reduction in inhibin due to a marked decrease in Sertoli cell number or function.
Case: 22 year old male with subfertility, oligospermia (low sperm concentration on semen analysis), an elevated LH concentration, a suppressed testosterone concentration, a normal FSH concentration, and normal size testes on examination.
What (fertility) treatment options would be available for this man?
The normal size testes and normal FSH concentration suggests that the "problem" is not with the seminiferous tubules since these tubules make up about 90% of the overall volume of the testes and contain Sertoli cells (which produce a hormone called inhibin that reduces the FSH concentration into a normal range).
The elevated LH concentration with the suppressed testosterone concentration suggests that there is a problem with testosterone production by the Leydig cells. The defect may be in the ability of the LH to have bioactivity (the LH molecules may be somewhat abnormal in structure, the cellular receptors for the LH molecules may be abnormal, or the Leydig cell's molecular messengers that normally act to effect the bioactions may be defective). The defect may also be with the ability of the Leydig cells to produce testosterone, although the enzymes employed in testosterone production are generally also used to form many other steroid hormones (so that metabolic enzyme deficiencies often would produce a wide range of problems, not just reduced sperm counts).
Spermatogenesis is stimulated by testosterone (produced by the Leydig cells) and FSH. If the testosterone concentration is reduced, the sperm concentration may also be reduced.
In this situation, administration of testosterone (as a medication) may improve sperm production and concentration. An alternative treatment option, if there were an adequate concentration of sperm available, would be to proceed with intrauterine inseminations to bring the sperm to the vicinity of the fallopian tubes (which may enhance its reproductive potential). Intrauterine inseminations could be performed in natural spontaneous cycles (generally with one egg per cycle) or in cycles of controlled ovarian hyperstimulation (with menotropins to produce many eggs per cycle to give the sperm "more targets to aim at").
Case: 34 year old male with subfertility, oligospermia (low sperm concentration on semen analysis), an elevated LH concentration, an elevated testosterone concentration, a low normal FSH concentration, and normal size testes on examination.
What (fertility) treatment options would be available for this man?
The normal size testes, low normal FSH concentration and elevated testosterone concentration suggest that the "problem" may be due to a "partial androgen resistance syndrome." Androgen resistance syndromes vary widely in terms of their severity, but can simply result in low sperm concentrations. The site of the defect appears to be in the seminiferous tubule's Sertoli cells, which have a decreased response to testosterone (either due to reduced testosterone receptor number or function).
The elevated LH and testosterone concentrations suggest that there is no functional problem with testosterone production by the Leydig cells. The elevated testosterone concentration with the reduced sperm concentration also suggests an androgen resistance syndrome since sperm maturation (spermatogenesis) is primarily stimulated by testosterone after puberty.
There is no known effective medical treatment in terms of enhancing sperm maturation for the androgen resistance syndromes. Therefore, if there is only a mild to moderate reduction in sperm counts, one could consider intrauterine inseminations (IUIs). These IUIs could be performed in natural spontaneous cycles (generally with one egg per cycle) or in cycles of controlled ovarian hyperstimulation (with menotropins to produce many eggs per cycle to give the sperm "more targets to aim at"). If IUIs are not effective, then assisted fertilization techniques such as ICSI (intracytoplasmic sperm injection) with In Vitro Fertilization are generally effective.
Maturation of Sperm
Case: 29 year old male with subfertility, azoospermia (absence of sperm within the semen), normal (male) appearance, unremarkable prior medical history, normal hormone evaluation (including FSH, LH and Testosterone concentrations), normal size and appearance of testes, normal vasogram and transrectal ultrasound examination, and a testicular biopsy that reveals a complete sperm maturation arrest.
What (fertility) treatment options would be available for this man?
The cause of this man's azoospermia appears to be that the sperm are not fully maturing within the (seminiferous tubules of the) testes and therefore the sperm are not being released into the lumen of the seminiferous tubules.
There is no medical or surgical treatment that is known to be effective for a complete sperm maturation arrest. Therefore, treatment options seem to include IVF with ICSI (In Vitro Fertilization with Intracytoplasmic Sperm Injection using sperm that is retrieved from testicular biopsy specimen), donor sperm or adoption. The ability to retrieve sperm from testicular biopsy material and achieve reproductive success with IVF and ICSI is well documented. I have a couple with just such a history that recently delivered viable healthy twins after IVF and ICSI using sperm obtained through testicular biopsy.
Case: 30 year old male with subfertility, normal appearance, unremarkable medical history, and a semen analysis read as "normal." The morphologic (shape) analysis within the semen analysis notes that 2% of sperm have two heads and 3% of sperm present have two tails.
What is the impact of these findings on the fertility of this man?
If the overall percentage of normal forms (normal appearing sperm cells) is within the normal range, then there is no known fertility or egg fertilization problem that is associated with specific defects within the abnormal population of sperm cells. That is, there is not a known reduction in the fertilization capability of the total production of sperm within the semen if a small number of two headed or two tailed sperm cells are found.
The overall percentage of "normal forms" that is generally considered to be "within normal limits" is 30% if using the World Health Organization's criteria and 14% if using the Kruger Strict Morphology criteria.
Case: 28 year old male with a history of oligoasthenospermia (reduced sperm concentration and reduced sperm motility), subfertility, normal appearance (virilization) on external exam, testicular size of 25 mL on each side, a prominant left sided varicocele on palpation, no prior pregnancies, and no problem with producing a specimen or completing intercourse.
Could the presence of the varicocele be the cause of the abnormality that is seen with the sperm?
Varicoceles are common anatomic abnormalities in men (including fertile men) that have the potential to decrease sperm concentration and motility. However, other causes of abnormal sperm production and motility should also be assessed and ruled out (ie., one should avoid "assuming" that the varicocele is the cause).
The basic evaluation for oligoasthenospermia includes a complete detailed medical and reproductive history, an expert physical examination (often by a Urologist), and a hormone evaluation (initial studies generally include FSH, LH and total Testosterone).
If the varicocele is thought to be the likely cause of the sperm abnormality after ruling out other known causes, then the decision to proceed to either surgical repair or timed intrauterine insemination (with the available sperm) should be discussed.
Surgical repair may improve the sperm quality such that this man is able to efficiently achieve his reproductive goals simply with vaginal intercourse. However, following surgical repair there may be no change in sperm quality.
Intrauterine insemination is often used effectively with mild to moderate abnormalities in sperm quality on semen analysis. This procedure essentially brings the sperm up into the uterine cavity near where the sperm fertilizes the egg within the proximal fallopian tube.
A consultation with an infertility specialist should be considered when treatment options are discussed. Many men undergo surgical repair without a clear understanding of the available alternatives.
Case: 25 year old male playing sports is accidentally struck in the testicles after which the scrotal sac becomes distended (swollen) and exquisitely painful.
What should be done immediately in this situation?
Trauma to the testes during physical activity of any sort is possible since the testes are easily accessible (they reside in the scrotal sac which hangs down from the remainder of the body). If significant trauma is suspected, as in this case, a physician should evaluate the man as soon as possible. Emergency room physicians may be able to perform the preliminary evaluation and would decide when to contact a specialist (urologist). Alternatively, if initial assessment by an urologist could be arranged then this would seem to be ideal.
If the blood or nervous supply to the testes is compromised by trauma, the effect on sperm quality can be dramatic and can occur quickly. The swelling within the scrotal sac may be due to bleeding within the sac, in which case treatment alternatives for this would be discussed by the urologist. Often the existing blood distends the scrotum while also tamponading the bleeding vessels.
Case: 11 year old male is running and jumping in the park with a handful of friends when he suddenly experiences a prolonged, sharp, intense (incapacitating), pulling pain in the scrotum. There was no recent history of trauma.
What should be done in this situation?
Immediate consultation with a physician is indicated. In the emergency room, the physician can assess the testes and request a urologic consultation. If immediate consultation with an urologist were available, this would seem to be ideal.
Torsion (twisting) of one of the testes is a possibility in this clinical situation. If a torsion is identified, immediate surgical treatment with (bilateral) fixation of the testes within the scrotal sac is often suggested by the Urologists. When a testis twists it can occlude its blood supply and this may result in irreparable damage to this testis if not repaired immediately.
Case: 31 year old male with azoospermia, 1-2 mL ejaculate volume, normal size testes, and a normal circulating hormone evaluation (including FSH, LH, Testosterone).
What further testing should be considered in this situation?
A testicular biopsy would confirm normal sperm production within the testes. However, in this case the hormone evaluation was totally normal which suggests the possibility of Sertoli Only Syndrome (a complete absence of sperm precursor cells) or a disruption in the patency of the vas deferens or ejaculatory duct.
A transrectal ultrasound examination and a vasogram are noninvasive tests that could diagnose a blockage in these structures (the ejaculatory duct or the vas deferens). These radiologic tests would also be able to identify the location of a blockage, which is useful since this information could then be used to direct surgical management.