Abstract
Male factor infertility is a contributory factor for approximately 50% of couples that present seeking investigation and treatment for infertility, either in isolation (25%) or in combination with a female factor (25%) [1]. Therefore an accurate and complete investigation of the male partner is essential in assessing all couples with infertility. A significant number of male factors are either reversible or amenable to treatment provided that an accurate assessment and diagnosis is made.
1 Introduction
Male factor infertility is a contributory factor for approximately 50% of couples that present seeking investigation and treatment for infertility, either in isolation (25%) or in combination with a female factor (25%) [1]. Therefore an accurate and complete investigation of the male partner is essential in assessing all couples with infertility. A significant number of male factors are either reversible or amenable to treatment provided that an accurate assessment and diagnosis is made.
The aims of evaluation, some of which are also mentioned in the American Urological Association (AUA) guidelines are to correctly identify the following:
Potentially reversible conditions contributing to male infertility either due to obstruction within the reproductive tract or treatment of endocrinopathies
Irreversible conditions amenable to assisted reproductive techniques using the sperm of the male partner
Irreversible conditions that are not open to the above, and for which donor insemination or adoption are possible options
Life- or health-threatening conditions that may underlie the infertility and require medical attention
Genetic abnormalities that may affect the health of offspring if assisted reproductive techniques are to be employed [2].
2 Definitions
Male factor infertility has a number of definitions, which to the casual or novice investigator can be both confusing and novel. It is important however to have a firm understanding of each term as this underpins the subsequent categorisation of patients and management. Table 3.1 lists common terms employed and their definitions:
3 Causes of Male Factor Infertility
When considering the investigations for male factor infertility it is imperative to have a clear understanding of the potential underlying causes. The causes of male infertility can be broadly categorised as follows:
Idiopathic
Congenital or acquired urogenital abnormalities
Malignancies
Urogenital infections
Abberations that impair temperature control such as varicocele
Endocrine dysfunction
Genetic abnormalities
Immunological factors [4].
Idiopathic male infertility is the most commonly found cause with abnormal semen parameters (30–40%). Table 3.2 provides an overview of the frequency of individual disorders as they may occur in a large fertility centre.
Table 3.2 [6] Percentage distribution of diagnoses of 12,945 patients attending the Institute of Reproductive Medicine of the University of Munster based on the clinical databank Androbase®. 1,446(=11.2%) of these patients were azoospermic. In the event of several diseases, only the leading diagnosis was included
4 Timing of Investigation
It is generally agreed that patients should be referred for further investigations if they meet the definition for infertility as defined earlier. However a number of national bodies, including the National Institute of Clinical Excellence (NICE) and the AUA, agree that there are certain circumstances where this can be circumvented. Such circumstances include the following: 1) female partner 36 years old and over; 2) a known clinical cause of infertility or a history of predisposing factors; 3) where treatment is planned that may result in infertility (for example therapy for malignancy); 4) where the couple or individuals question their fertility potential including even in the absence of a partner (AUA only) [2, 7].
5 History and Examination
5.1 History
A thorough history should be taken and should specifically include the following.
5.1.1 Reproductive History
The duration, frequency, timing and success of attempted conception should be noted along with conceptions with previous partners to allow correct characterisation of the infertility and whether or not they meet the definition given earlier. The clinician should attempt to categorise whether the patient or couple is suffering from primary or secondary infertility as this will determine the investigations required and future options for fertility treatment (See definitions in Table 3.1).
5.1.2 Sexual History
Issues around sexual dysfunction should be explored thoroughly and include erectile dysfunction, premature ejaculation, penile curvature (Peyronie’s disease or congenital curvature), changes in libido and orgasmic/ejaculatory function.
The use of contraception and lubricants should be identified as some have been identified as affecting sperm quality [8].
A thorough history should include previous sexually transmitted diseases (STDs) if any and their treatment.
5.1.3 Current General Health
Acute illness can have a profound effect on male fertility and sperm parameters. However, sperm parameters at the time of illness can be normal and only deteriorate several weeks later since the normal human spermatogenesis cycle is 64 days + 5–10 days for epididymal sperm transit.
Symptoms such as headaches, galactorrhea or impairment of the visual fields may be indicative of pituitary lesions.
5.1.4 Childhood Illnesses and Developmental Issues
A number of illnesses in childhood can affect fertility and a careful history combined with examination should identify these patients.
There is ongoing controversy regarding the relevance of a childhood history of unilateral undescended testis (UDT), as, despite having impaired semen parameters in adulthood, the paternity rate of such men is the same as that of men with bilateral descended testes. The same, however, cannot be said for those with bilateral undescended testes [9, 10].
Mumps orchitis, testicular torsion and inguinal surgery are also risk factors for male factor infertility and should be considered in the differential diagnosis.
The onset or delay of puberty can also suggest an endocrinological or genetic basis for male infertility.
5.1.5 Past Medical and Surgical History
Previous genitourinary infections including orchitis, epididymitis, prostatitis or sexually transmitted diseases should be investigated. Post pubertal infection with mumps when associated with orchitis increases the likelihood of male infertility.
Chronic medical conditions can also be associated with infertility. Patients with chronic renal disease diabetes and multiple sclerosis may be infertile and have a higher incidence of erectile dysfunction.
5.1.6 Medications
A number of medications are known to affect fertility and a selection of the common ones is listed in Table 3.3.
Table 3.3 Medications and their effects on male fertility (data from [11])
6 Examination
6.1 General Examination
An assessment of the patient’s general condition should be documented. Fat distribution, presence of gynaecomastia and hair patterns may be related to underlying hormonal or metabolic abnormalities. Klinefelter’s syndrome should be considered in patients who are tall with gynaeacomastia and bilateral low volume testes, however they may be phenotypically normal apart from the small volume testicles.
6.2 Genital Examination
This should include both an examination of the penis and scrotum including the scrotal contents.
The penile length should be assessed by measuring the stretched penile length from the symphysis pubis to the coronal sulcus or meatus. A small penis and testes can be a sign of Kallmann’s syndrome. Any plaques that may represent Peyronie’s disease should be identified and documented as this may cause issues with penetrative intercourse and erectile dysfunction. The urethral meatus should be examined to check for meatal stenosis or hypospadias and the foreskin checked to see if it is easily retractile or if it is phimotic.
The scrotum should be examined in a warm environment and in both the lying and standing positions. The clinician should proceed in a logical manner starting on one side and completing the examination of one hemiscrotum before moving to the contralateral side. Each structure should be identified and described as below.
6.2.1 Testes
The testes should be examined individually. Two hands should be used with the thumb and forefinger of each being used to isolate and roll over the surface of the testis. Comment should be made on the size, which can be formally assessed using either an orchidometer or callipers. Any masses should be noted as well as the consistency of the testes.
6.2.2 Epididymis
The epididymis should be palpated in a similar manner to the testicles. Dilatation of the epididymis may suggest obstruction, inflammation or infection.
6.2.3 Vas Deferens
The vas deferens should be identified and palpated along its length within the scrotum. A defect in the vas should be palpable after a vasectomy or the vas may be completely absent either unilaterally or bilaterally. Absence of the vas is usually associated with a genetic mutation. Unilateral absence of the vas is associated with an ipsilateral absent kidney whereas bilateral absent vasa, CBAVD (Congenital Bilateral Absence of Vas Deferens) is associated with mutations in the Cystic Fibrosis Transmembrane Regulator gene (CFTR).
Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
