الفهرس 
Etiology of infertilityOnly 14 pages are availabe for public view
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Abstract
Infertility is a major public health problem because it does not affect the couples’ life only, but it also affects the healthcare services and social environment. With the fast progression in reproductive medicine and the experiences gained through infertility management, a wider range of treatment options have become available for those who have difficulties to conceive a child. To increase chances of conception, a range of assisted reproduction techniques (ART) are available.
The justification for this study was based on studying the frequency of consanguinity among infertile couples and to identify genetic background of infertility and its mode of inheritance. The present study was carried out in infertility clinic, Alexandria University, El-Shatby Maternity Hospital. Patient’s group was selected from the attended patients in this clinic, while the control group was selected from patients attending various clinics of El-Shatby Maternity Hospital for other reasons than infertility.
A case control study was followed. The target population of the study included 250 cases & 250 control group were selected according to the selection criteria A questionnaire was constructed to include all relevant data of both couple; couple’s age, causes of infertility, gravidity, parity, occurrence of abortion, stillbirth, and couple’s consanguinity. A pilot study was carried out to test all included variables for the purpose of addition and or deletion of any variable. An interview of both patients and controls was carried out in infertility clinic and non infertility clinics of El-Shatby maternity hospital of Alexandria university according inclusion & exclusion criteria. Reviewing of patient files, was carried out in order to identify the carried out investigations and the clinical diagnosis. The following results were obtained.
Three quarters of female patients (72.8%) were younger than 35 years compared with 88% of the control group while 92% of male patients were younger than 50 years compared to 86% among the control group. Statistical significant difference was found in both groups. (P value=0.001 and 0.027 respectively). Educational status of females was similar in both cases and control groups. University and post graduate groups were slightly lower among female cases (9.2%) than females of the control group (10.8%); illiterate/read and write among both cases and control groups represented 32.8%% and 41.2% respectively with no significant difference (P value=0.191). Male education was almost the same in both cases and control groups. University and postgraduate groups represented 9.6% of cases compared to 8% of the control group, while illiterate/ read and write represented 36% and 35.2% respectively. The difference was not significant. (P value=0.452)
In both cases and control groups, most of the females were house wives constituting 95.2% and 94% respectively, while the rest of the sample was distributed among manual and sedentary workers. No significant difference was observed. (P value=0.432)
Regarding male occupation status, only 6% of the cases were not working compared with 14% among males of the control group. Manual workers were found more among the cases (42%) than the control group (31.6%). The difference was statistically significant (P value< 0.01)
Almost all females of both cases and control groups had no special habit (98% versus 99.2% respectively); while more than half of male cases (55.6%) had irrelevant special habit compared to 84% of the control group. Smoking, drinking coffee and combined habits constituted 30.4%, 7.2% and 6% among male cases compared with 15.6%, 0.4% and 0% among control group. The difference was significant (P value< 0.01)
The majority of females had irrelevant medical history in both case (88.8%) and control (80.4%) groups. Positive medical history was recorded in 12.6% of female cases versus 19% of the control group. The difference was significant (P value=0.012). Among those who had irrelevant medical histories equal results were found in both cases (94%) and control (95.2%) groups. On the other hand all studied medical problems were distributed in both cases and control groups with no observed significant statistical difference. (P value=0.069)
About two third of the female cases had irrelevant surgical history compared to about half of females control group. The remaining sample experienced Previous cesarean section (4%and 36.4% r) appendicectomy (8.4% and3.2%) and combined surgical exposure (6.8% and 2.8%) respectively. On the other hand, surgical history among male groups showed that those who had irrelevant history represented 85% of cases and 96.8% of the control group. Those who experienced varicoceles in both groups represented 7.6% and 0.4% respectively.
Consanguineous marriages were recorded more among the control group (26.8%) than cases group (17.2%). Statistical significant difference was recorded (P value = 0.01). Most of the consanguineous marriages recorded were of First Cousin degree representing 72.1% and73.1% of both case and control groups respectively. On the other hand paternal parents consanguinity were found more among controls than cases (22.4% versus 20.4% respectively), while maternal parents consanguinity were recorded more among cases than controls (27.6% versus 23.6% respectively). No statistical significant difference was recorded (P value= 0.586 and 0.305 respectively).
Regarding duration of marriage, around 43% of both cases and controls were married for less than 5 years and more than 30% were married from 5 to ten years. The rest of the samples were married for more than ten years (21.2% and 24% of cases and control groups respectively).
The coefficient of inbreeding was found more in the control group (0.0145) than in cases group (0.0101).
The most frequent motive of consanguinity among both cases and control was emotional motive constituting 30.2% and 47.8% respectively. Among cases the second frequent motive was combined motive followed by incomplete education (23.2 and 20.9 respectively). On the other hand among control the second frequent motive was incomplete education followed by combined motive (16.4 and 11.9 respectively). No significant statistical difference was found.
Lumping of consanguineous couples among both cases and control revealed that the most frequent motive was emotional (40.9%) followed by incomplete education (18.1%) and combined motives (16.4)
More than half of female cases (65.2%) were nulligravida, while 58.2% of the control group was gravida 3 or more.
More than 80% of the cases were nullipara on the other hand 76.1% of the control group were para one or two
More than three fourth of both cases (72.8%) and control (96.8%) had regular menses. 22.4% of the cases had irregular menses compared to 3.2 % of females of the control group.
History of abortion was recorded among 20.4% of the cases compared to 24% of the control group; half of them had history of one abortion in both groups,1.2% of cases recorded one or two still births compared to 2.4% of the control group and no neonatal deaths were recorded among cases compared to 6.4% of the control group.
Around 15% of the cases had unspecified/uncertain diagnosis, while 85% had specific diagnosis.
2.9% of the maternal causes were found to have autosomal recessive or multifactorial inheritance.
The majority of both female and male causes were found to have genetic uncertain inheritance. Environmental factors were recorded among 21.4% of female causes and 0.8% of male causes.
More than half of couples in cases group (54.8%) were married for less than five years and 13.6% were married for more than 10 years.
Primary infertility represented around 70% of the cases and secondary infertility represented the remaining 30%.
47.2% of the causes were due to female infertility, 20% due to male infertility and 19% combined causes, while non specified causes represented around 14%.
Among the young age group females, the percentage frequency of consanguinity was higher than among those of non consanguineous group (79.1% and 71.5% respectively). While in the advanced female age group, the percentage frequency of non consanguineous group was higher than those of consanguineous group (28.5 and 20.5% respectively). There was no statistical significance P Value=0.310. The same results were obtained among male age group, where the percentage of consanguinity was higher than that of non consanguineous group (79.1 and 63.3% respectively). Among middle age group the percentage frequency of non consanguineous group was higher than among consanguineous group (3.3.8% and 20.9% respectively). The statistical difference was not significant P Value=0.107
Referring to the duration of marriage the percentage frequency of consanguinity of less than 10 years marriage (67.4%) was less than that among non consanguineous group (81.6%), the opposite was observed among those with 10 years or more duration of marriage (32.6% and 16.4% respectively). The statistical difference was not significant P value= 0.037.
The percentage frequency of consanguineous and non consanguineous groups was almost similar among different groups of gravidity (67.4% versus 64.7%, 25.6% versus 30%, 4.7 versus 3.9% and 2.3% versus 1.4%) no statistical significance was found P value=0.919
Similar results of parities were found among both consanguineous and non consanguineous groups (79.1% versus 82.1, 20.9 versus 17.9%). No statistical significance found P Value=- 0.0638
History of reproductive wastage among both consanguineous and non consanguineous groups was almost equal (79.1 versus 79.7% and 20.9% versus 20.3% respectively). No statistical significance were found P value= 0.924
On the other hand, positive history of congenital malformation was higher among non consanguineous (6.8%) than consanguineous group (2.2%). No statistical significance found P value= 0.205
Maternal genetic uncertain inheritance diseases, was higher among consanguineous than non consanguineous group (86.1% and 73.5 respectively) while environmental inheritance among non consanguineous (22.9%) was higher than consanguineous group (13.9%).The statistical difference was not significant. P value= 0.220
Referring to paternal mode of inheritance, Genetic uncertain was slightly higher among non consanguineous group than consanguineous group (98%, and96.2% respectively). While Autosomal dominant, X-linked and chromosomal aberration mode of inheritance were higher among consanguineous group than non consanguineous group (3.8% and 1% respectively). The statistical difference was not significant P value=0.497
Both primary and secondary infertility were equal among both consanguineous and non consanguineous groups (69.8 versus 69.6% and 30.2% versus 30.4 %). No statistical significance was found. On the other hand both maternal and paternal infertility were slightly higher among non consanguineous than consanguineous group (47.9% versus 44.2% and 20.3% versus 18.6%), while combined and unspecified causes of infertility were higher among the consanguineous group (20.9% versus 18.8% and 16.3% versus 13%). No statistical difference was found P value= 0.918
F value of gravida 1 and 2 was higher among cases than control (F= 0.009 versus 0.0075) respectively, while the F value of gravida 3 or more among control group was higher than among cases (F= 0.0180 versus 0.006) respectively.Referring to parity the F value of para 1 or 2 was slightly higher among cases group (F=0.013 versus 0.012).Para 3 or more was higher among control group than cases group 0.024 versus 0) respectively
In case of negative history of abortion, the F value was higher among control group than cases group (F value= 0.0146 and 0.009) respectively, while among the presence of more than 2 abortions, F value was higher among cases group than control (F value= 0.017 and 0.003) respectively. The presence of 1 or more
Stillbirths F value was equal among cases than control groups (F value = 0.020).
The F value of both Negative and positive histories of congenital malformation were recorded higher among control group than cases group. F value= 0.013 versus 0.0092 and 0.0015 versus 0.0009.
The F value of cases was higher among young maternal age groups than among control group,( F value= 0.0107 versus 0.0103), while F value of advanced maternal age group was recorded higher among control than cases group (F= 0.0146 versus 0.00758) respectively.
On the other hand among both groups who were married for less than ten years and ten years or more, the F value was higher in control than in cases group In both groups ( less than 10 years or 10 or more years) of marriage ( F value= 0.0116 versus 0.00758 and 0.02369 versus 0.01916) respectively.
The F values of primary infertility, was less than that of secondary infertility. F value= 0.00799 and 0.0119 respectively.
Regarding paternal mode of inheritance F was recorded only among genetic uncertain group (F value= 0.01449).
On the other hand the maternal mode of inheritance was recorded among genetic uncertain and environmental inheritance. (F value=0.01706 and 0.0071) respectively.
Both male special habits and male surgical history were also significant predictors of female infertility where those who married to male with special habits or positive surgical history were 3 times risk being infertile. Females who are older are 1.5 times more to be infertile.