A new study has revealed that the overall prevalence of primary infertility caused by chromosomal abnormalities was at 25.4 per cent among the patients who consulted the genetic department.
Dubbed "Prevalence of primary infertility caused by chromosomal abnormalities and assessment of clinical manifestations in Rwandan patients”, the study showed that females were more affected than males — with 32 and 20.58 per cent of females and males being primarily infertile due to chromosomal abnormalities, respectively.
Infertility is classified into primary and secondary infertility. Primary infertility, also named sterility, is a term used for women who have never been pregnant and for men who have never impregnated a woman despite one year of regular unprotected sex.
The term secondary infertility refers to the inability to conceive in a couple who have had at least one successful conception in the past.
The study by researchers from University of Rwanda’s School of Medicine and Health Sciences and other affiliations carried out research on 59 patients, male and female, with primary infertility who consulted the genetic department between June 2009 and June 2019.
The study whose findings were published in June was conducted in three referral hospitals — University Teaching Hospital of Kigali (CHUK), Rwanda Military Hospital (RMH), and University Teaching Hospital of Butare (CHUB) — which work with the Genetic Lab located in Huye.
Symptoms considered for females were the inability to conceive for one year despite unprotected and regular sexual intercourse and abnormal menstrual cycles.
Symptoms considered for males were the inability to induce pregnancy regardless of multiple unprotected sexual intercourse.
The majority of patients (57.6 per cent) were males whilst 42.4 per cent of patients were females.
Causes
The study says that the most predominant clinical feature found in men was gynecomastia (14.7 per cent) followed by micropenis (11.8 per cent).
Gynecomastia means excessive development of the male breasts and temporary enlargement of the breasts is not unusual or abnormal in boys during adolescence.
Ejaculatory problems and abnormal reproductive organs were represented by 8.8 per cent of patients whilst ambiguous genitalia were found in 2.9 per cent.
Primary amenorrhea was the most common clinical feature (28 per cent) in women, followed by abnormal reproductive organs (16 per cent).
Amenorrhea is a condition in which there is an absence of menstrual periods in a woman.
Absent or delayed secondary characteristics were seen in 12 per cent of women, followed by short stature at 8 per cent.
Ambiguous external genitalia were found in 4 per cent of female patients.
The study results showed that 14.7 per cent of male patients had low testosterone levels, 2.9 per cent had low oestradiol levels, whilst Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were both high in 5.9 per cent of male patients.
LH and FSH stimulate the gonads - in males, the testes, and in females, the ovaries and are essential for reproduction.
Oestradiol which are the most potent oestrogenic hormones secreted by the mammalian ovary were both abnormal in 16 per cent of female patients.
It shows that 12 per cent of female patients had abnormal LH and Testosterone levels, whilst progesterone was low in 4 per cent.
It also found that 46.9 per cent of male patients had abnormal semen with azoospermia (absence of sperm in the semen) being the most common cause (29.4 per cent), followed by oligospermia (deficiency of sperm cells in the semen) at 8.8 per cent.
The study concludes that chromosomal abnormalities contribute significantly to primary infertility in the Rwandan population.
It thus recommends that health practitioners should consider these abnormalities in patients attending the fertility clinic and highlights the need for patients to always consult as a couple.