This guide will shed some light to the (obscure process of) routine investigations in patients with primary infertility
When a patient has never been able to conceive, this is referred to as primary infertility. In these circumstances, it is equally vital to evaluate both male and female causes, as male factors account for 40-50 percent of infertility cases.
On the assumption that no obvious red flags are uncovered during history taking, the following tests are suggested:
Female:
Serum progesterone to confirm ovulation: This test is to be done on day 21 of a regular 28 day cycle (or 7 days prior to expected menses).
Antral Follicle Count: Because difficulty to conceive is sometimes associated with a low range. This progressively declines with age.
Sonohysteroscopy to rule out intrauterine pathology (with potential to order hysteroscopy for additional evaluation and/or treatment).
Hysterosalpingography (HSG) to rule out any tubal pathology. If suspected endometriosis, then a Laparoscopy could be done instead and simultaneously assess tubal patency.
Male:
Semen analysis evaluating sperm concentration, motility, and morphology.
Abnormal sperm results would warrant additional testing:
Physical evaluation - palpation for the vasa deferens and epididymis, testicular measurement, and assessment of potential varicocele.
In results show complete azoospermia or severe oligozoospermia warrants endocrine assessment to determine a non-obstructive cause. Recommended endocrine tests are serum FSH, LH, testosterone, SHBG and prolactin levels.
Further testing can be done if levels of TSH, LH and testosterone are normal to investigate any possible ejaculatory duct obstruction (EDO). A transrectal ultrasonography (TRUS) can be done to check for obstructions in the vesicles, prostate or ejaculatory ducts.
Management of the male partner of an infertile couple presenting with azoospermia
As a couple, receiving such news whilst trying to conceive could be devastating. But it is important to understand that this test is not conclusive in determining a male's fertility because he may still be able to conceive.
For better results, the sperm analysis should be repeated, ensuring adequate collection of sperm with 2-3 days of prior abstinence. After collection, the specimen must be kept at body temperature and analysed within one hour; therefore, it is recommended that this test be performed on-site at a specialised andrology laboratory.
If the second finding is consistent with azoospermia, further testing will be required to determine the cause.
There are two main causes of azoospermia; Obstructive, where there can be a blockage in the vas deferens, the epididymus or the ejaculatory ducts. And Non-Obstructive, which can indicate possible genetic causes, endocrine disorders, retrograde ejaculation, or testicular causes.
Differential Diagnosis can be broken down into:
Pre-testicular: presents deficient gonadotropin drive – low FSH
Androgen Resistance: familial pseudohermaphrodotism
Testicular failure: no spermatogenesis – shows a raised FSH
Post-Testicular duct obstruction: show the presence of functional sperm, normal size of testes and FSH is not raised.
Medical History
It is critical to provide a thorough medical history to your doctor, in order to determine what additional testing is required. In these cases, without ruling out the obvious, you should inform your doctor if there have been any prior surgeries, such as a vasectomy, or if there have been any prior injuries or issues with the testicular structure.
Your doctor may ask about age of puberty and if there have been any previous pregnancies. Other relevant information should be discussed, such as: any current medications or if you use illicit drugs such as anabolic steroids, alcohol consumption, sexual function, inflammation, known family history of cystic fibrosis or any known gene mutations, heat exposure, saunas, lifestyle, history of STIs, radiation treatment, prior illness or infections, or diabetes.
Physical Examination
A physical examination involves a rectal and testicular examination and check for the presence of vas deferens, varicoceles, or blockages in the ejaculatory duct.
Other signs such as gynecomastia and lack of maturation of the reproductive organs should be noted.
Further Tests
An endocrine test to determine any hormonal causes; check FSH LH and testosterone as a baseline.
Genetic testing could be considered to determine any genetic mutation
If the volume of the seminal emission is low, this can indicate an obstruction of the ejaculatory ducts, or an ejaculatory dysfunction such as retrograde ejaculation. In this case testing the post ejaculate urine as well as a transrectal ultrasonography (TRUS) are recommended to diagnose ejaculatory duct obstruction (EDO).
Referrals
A referral to a urologist specialised in male infertility should be considered or a reproductive endocrinologist depending on the individual case. A specialist can further investigate by biopsy if sperm can be retrieved from the testes and suggest IVF, artificial insemination, or intracytoplasmic injection.
References:
Elder, K., & Dale, B. (2010). In-vitro fertilization. Cambridge University Press.
Fode M, Sønksen J, Ohl DA. In: Hammer GD, McPhee SJ. eds. Pathophysiology of Disease: An Introduction to Clinical Medicine, 8e. McGraw-Hill; Disorders of the Male Reproductive Tract.
Jarvi K, Lo K, Grober E, et al. The workup and management of azoospermic males. Can Urol Assoc J. 2015;9(7-8):229-235. doi:10.5489/cuaj.3209
Merck Manual Consumer Version.Problems with Sperm. (https://www.merckmanuals.com/home/women-s-health-issues/infertility/problems-with-sperm?query=azoospermia)
The Royal Australian College of General Practitioners. (2017). Male infertility – The other side of the equation. RACGP - The Royal Australian College of General Practitioners. https://www.racgp.org.au/afp/2017/september/male-infertility/
