Symptoms (what is happening to the patient, how to diagnose)
Male and female infertility does not usually present with a set of symptoms that would lead to its diagnosis. However, infertility presents as the inability of a couple to have children after a year of sexual activity without use of any contraceptives (Galhardo et al 2016, p.420). According to the World Health Organization, infertility for a woman is the inability to become conceive or maintain a pregnancy or carry a pregnancy to a live birth. For a man, infertility presents as the inability to get a woman pregnant. While this is the major complains of most patients, they often present with psychological symptoms following infertility. Many patients report symptoms of anxiety, depression, and loss of control over their lives (Joelsson et al 2017, p.216). It is estimated that the level of depression among people with infertility is comparable to patients who have been diagnosed with cancer.
Diagnosis (the mechanisms/techniques used to diagnose a diseased state)
Diagnosis of infertility starts with a comprehensive history and physical examination. For both men and women, history and physical examination may help to narrow down the required tests that are to be done to determine cause. For female infertility, several tests can be done to ascertain the cause of infertility. To evaluate ovarian function, women are recommended to have blood tests done to find the level of day 3 Follicle Stimulating Hormone (FSH) and anti-Mullerian hormone, both which evaluate the extent of ovarian reserve function (Stevenson et al 2016, p.109). Another test is conducted seven days before the subsequent menstrual period. This test measures the level of luteal progesterone to ascertain whether spontaneous ovulation has occurred. A low amount of all these three hormones indicate a problem in ovarian function as the primary cause of infertility.
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Infertility can also be tested by assessing tubal patency, which is usually done using an imaging technique. Hysterosalpingography involves injecting a dye via the cervix in order to visualize the uterus and fallopian tube (Hanson et al 2017, p.179). This imaging technique uses fluoroscopic imaging to visualize the organs. Images also reveal any filling defects or abnormalities in uterine contours. If the problem is in the uterus or fallopian tubes, this test reveals that.
Based on the results of blood hormonal tests and imaging described above, a gynecologist can recommend laparoscopy as an advanced test. This involves surgical visualization of the pelvis and uterus to reveal any adhesions, endometriosis or for further evaluation of the uterus (Stevenson et al 2016, p.119). Hysterosonography is another advanced test which can be done by inserting a scope via the cervix to evaluate the uterus for growths such as myomas or polyps.
Male evaluation of infertility also begins with a comprehensive history and physical examination. The most common way of diagnosing male infertility is through semen analysis. In this analysis, semen is taken and analyzed for sperm count, sperm morphology and motility (Hanson et al 2017, p.171). Abnormal findings usually show a low sperm county, abnormal sperm morphology and reduced mobility. If the test shows any abnormality, the patient is recommended to have another test done between one and three months after the initial test. If the test is still abnormal in the second test, the patient is referred to a urologist to examine the testis, check for varicocele or tumors. Lab work can also be done o determine hormonal levels, karyotypes and Y chromosome microdeletion.
Biochemistry/Risk Factors
The most common risk factor for infertility is age. Risk of infertility increases with advancing age. Women have a high chance of successful pregnancy before 30 years of age while men have a higher success before 35 years of age (Rossi et al. 2016, p.221). This risk factor is particularly significant in women, with ovarian reserves decreasing as aging continues. There is also an increased chance of chromosomal abnormalities with the oocytes as age passes by. Hence, while a woman may experience regular menstrual cycles, the ovarian cycles become irregular due to decreasing oocyte count.
Another risk factor for male and female infertility is alcohol intake and smoking of tobacco. Alcohol has been found to cause a rise in estrogen level causing a decrease in follicle-stimulating hormone, with the end result being an impairment of ovulation. Research indicates that an increase in alcohol consumption is directly proportional to a decrease in fertility (Rossi et al. 2016, p.229). Alcohol on its own, however, does not affect male fertility. Tobacco use is a common risk factor for both male and female infertility. Among women smokers, menopause starts about four years earlier than their counterparts. Toxic components such as cadmium found in cigarettes are believed to cause intrafollicular oxidative stress and DNA damage within oocytes, increasing the chances of female infertility (bllacqua et al. 2018, p.115). Smoking is a risk factor for male infertility since it decreases sperm production and affects sperm morphology and motility.
Body Mass Index (BMI) is also a risk factor for infertility. A BMI of below 20 and above 24 are considered risk factors for ovulatory infertility. Weight and BMI are related to male infertility. Studies have found that there is an inverse relationship between BMI and sperm count, suggesting that weight gain is a risk factor for male infertility (bllacqua et al. 2018, p.115). Also, overweight patients have been found to have a greater percentage of sperms with abnormal morphology as compared to men with normal weight and underweight men. BMI as a risk factor for male infertility is thought to be linked to hormonal changes with increasing weight such as higher estrogen levels and low testosterone levels (Rossi et al. 2016, p.226). While BMI has been linked to infertility, lack of exercise is also a risk factor for infertility. Men and women who lead active lifestyles have a higher chance of fertility.
Causes (what is happening scientifically, microscopic and macroscopic)
Male factor as a cause of infertility accounts for about 40% while female factor accounts for another 40% while unidentifiable causes account for 20% of the causes (Sing et al . 2017, p. 2280). Female infertility can be caused by imbalance of the hormones that affect a woman’s reproductive cycle. Conditions that cause changes in hormonal levels and therefore ovulation include: polycystic ovarian syndrome (PCOS), diminished ovarian reserve, premature ovarian insufficiency and hypothalamic amenorrhea. These conditions affect the ovulation process; hence no egg is released microscopically from the ovary.
Tubal blockage is another common cause of infertility. Tubes can be blocked or damage due to scarring after infections, causing a barrier preventing sperm and the oocyte from meeting (Sing et al . 2017, p. 2280). Hence, microscopically, the sperm and the ovum do not meet for fertilization to take place. The most common infectious cause is pelvic inflammatory disease which can occur due to sexually transmitted infections such as gonorrhea and Chlamydia. When the fallopian tubes are infected, they heal with scar formation, forming a barrier that blocks the movement of the sperm and the ovum, causing infertility.
Advancing age is another cause of infertility among women. The major problem with advancing age is the diminishing ovarian reserves and chromosomal problems that occur in the oocyte. The decreasing number of ova is reflected in changing hormonal levels of women. Another problem that arises with age is an increasing number of aneuploid oocytes, where the normal number of oocytes changes (Deshpande &Gupta 2019, p.287). Aneuploidy also causes infertility. Endometriosis and uterine fibroids have also been identified as cause of infertility. They cause pelvic pain and dysfunctional uterine bleeding, leading to infertility.
Male infertility can be caused by infection, trauma, environmental toxins and surgery involving reproductive organs. Infections such as tuberculosis and prostatitis can cause a decrease in sperm quality, causing infertility. High testicular temperature can affect spermatogenesis leading to infertility. Incidences such as surgical ligation of the vas deferens, cancer of the testis, trauma and surgery affecting the testis can affects the blood-testicular barrier (Sing et al . 2017, p. 2280). A breach of the blood-testicular barrier causes anti-sperm antibodies to develop, leading to damage to sperms. Sperm count can also be affected by exogenous testosterone such as that taken by body builders. Exogenous testosterone decreases sperm count.
A congenital cause of male infertility is a varicocele where veins in the spermatic cord are enlarged that it causes a mass in the scrotum, affecting sperm production (Deshpande &Gupta 2019, p.287). Also, undescended testis can cause infertility if not corrected within the right time to reverse the damage. Chromosomal abnormalities such as Klinefelter’s syndrome have are also a cause of infertility.
Normal Physiology (what SHOULD be happening; in an non-diseased state)
Ovulation is usually necessary for fertilization to take place. Ovulation is controlled by the hypothalamus through secretion of luteinizing hormone and follicle-stimulation hormone. FSH simulates oocyte transformation which eventually ends with the secondary oocyte leaving the follicle. A spike in FSH and LH from the pituitary gland causes ovulation, after which the secondary oocyte travels to the fallopian tube awaiting fertilization (Basuino $ Silveira 2016, p.38).
Fertilization usually occurs in the ampulla of the fallopian tube. It involves the fusion of a sperm and an oocyte. The process begins after ejaculation after ovulation has taken place in the woman. The sperm is first capacitated, increasing its motility and destabilizing its membrane in preparation for penetration into the oocyte. The sperm travels to the ampulla, as it swims towards a high concentration of progesterone in the ampulla (Li 2017, p.20).. The sperm then binds to the corona radiata then enters the oocyte. Once it enters the oocyte, a membrane is formed to prevent entry of other sperms. Once the sperm enters the oocyte’s cytoplasm, the outer coating and tail disintegrate, causing a cortical reaction to prevent entry of other sperms. The sperm’s nucleus fuses with the oocyte’s nucleus to produce a diploid cell known as the zygote. They zygote then undergoes cell division as it travels to the uterus for implantation and growth into a fetus ( Li 2017, p.20).
Pathophysiology (pharmacological and/or surgical)
Pathophysiology of infertility is multidimensional depending on the cause of infertility. However, the primary cause is the inability of ovulation to take place through hormonal imbalances such as low FSH and LH levels (Naqvi et al. 2019, p.18). These two hormones are responsible for ovulation to occur, hence a problem in their fluctuation causes infertility. Also, any obstruction of fertilization is another pathophysiological path to on fertility. Cases such as tubal blockade lead to inability of the sperm and oocyte to meet for fertilization to take place, causing infertility. Male factors such as low sperm count or poor sperm morphology and motility hinder fertilization, causing infertility. Oxidative stress also causes abnormal sperm count and changes in sperm genetic makeup, causing infertility (Barati et al 2020, p.14)
Treatment
Treatment can be aimed at allowing fertilization to take place within the fallopian tube naturally. To achieve this, intrauterine insemination can be done where a sperm is introduced directly into the uterus. This way, sperm is placed close to the ovum, facilitating fertilization. Also, medications can be given to induce ovulation. Such medications include letrozole and clomiphene citrate which are used in women with infertility due to difficult ovulation (Jin 2015, p.320). Medical treatment can also be combined with intrauterine insemination for better outcomes.
Surgery can be used to manage several causes of infertility such as myomas, polyps, endometriosis and tubal blockage. Tubal blockade or adhesions can be managed by laparotomy or through hysteroscopy with tubal cannulation (Lindsay& Vitrikas 2015, p.310). Fibroids can be managed by myomectomy if they are causing abnormal uterine bleeding. Also, polyps can be managed through hysteroscopy with dilatation and curettage.
For male factors, infertility caused by varicocele can be managed by surgical varicocelectomy where the varicocele is removes. Patients with oligospermia can have a sperm wash done and if more than two million sperms are recovered, intrauterine insemination can be done (Lindsay& Vitrikas 2015, p.310). Low testosterone levels can be managed by supplementing with acetyl L carnitine and vitamins C to stimulate sperm maturation.
In vitro fertilization and assisted reproduction are opportunities for people with infertility to have children. Eggs are extracted from the ovary after provision of medications such as clomiphene citrate (Jin 2015, p.320). The extracted oocytes and sperms are placed together and fertilization is allowed to take place. After about three days, embryos are introduced to the uterus, guided by ultrasound. Other modifications in invitro fertilization include gamete donation for couples unable to provide their own sperms or oocytes and gestational carrier for women who cannot carry their pregnancy (Lindsay& Vitrikas 2015, p.310).
Future (where is the research moving, possible research avenues to look at)
The future of infertility treatment will involve the revival of aging oocytes so that women have the capacity to carry their own genetic pregnancy despite of their ages (Manipalyiran et al. 2016, p.6). The future aims at eliminating timelines of conception. In addition, technology that will produce germ cells from embryonic stem cells will provide treatment for patients with diminished germ cells (Volarevic et al. 2015, p.9). The future ought to also involve further research into the causes of infertility in order to facilitate development of better methods of treatment for infertility.
Bibliography
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