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Chromosomal anomalies have been postulated to be as one of the principal genetic factors in male infertility. Cytogenetic evaluation of men with severely compromised semen parameters reveals an increased incidence of chromosomal aberrations when compared with the normal population. The objective of this study was to determine the chromosomal consti...
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... The type the of 88 chromosomal infertile men aberrations studied, 9 showed detected some in kind the azoospermic of constitutional and oligozoospermic chromosomal men abnormality are given corresponding in Table I. Men to a with frequency azoospermia of 10.2 per underwent cent. The occurrence percutaneous of epididymal chromosomal sperm aspiration abnormality (PESA) in the or azoospermics testicular sperm and extraction oligozoospermics (TESE). was An 14.3 absence per cent or (6/42) decreased and sperm 6.5 count per cent (range (3/46) 0- 4 million/ml) respectively. with Chromosomal reduced motility variants (range were 6-12%) seen and in 14 morphology men with azoospermia (normal form and 2-10 19 with %) was oligozoospermia, seen in these resulting patients in an occurrence of 37.5 per cent. A normal karyotype of 46,XY was observed in all the controls. The type of chromosomal aberrations detected in the azoospermic and oligozoospermic men are given in Table I. Men with azoospermia underwent percutaneous epididymal sperm aspiration (PESA) or testicular sperm extraction (TESE). An absence or decreased sperm count (range 0- 4 million/ml) with reduced motility (range 6-12%) and morphology (normal form 2-10 %) was seen in these patients (Table I). Aberration The in abnormalities the heterochromatin observed region in of the the two Y groups chromosome comprised was of the gonosomal most frequently aberrations identified (n=5) (Fig. 1, polymorphism 3b, 3d), in 27 Robertsonian (30.7%) infertile translocation men. Among (n=1) 3 (Fig. 4a), (3.4%) men trisomy the Y/F 7 index mosaicism ratio was (n=1), >1 supernumerary (Fig. 3e) and in marker 24 (27.3%) chromosome males the Y (n=1) chromosome (Fig. 2) was and smaller deletion than in chromosome the G group chromosomes 16 (n=1) (Fig. 4b). (Table II) (Fig.3c). The Y/F index ratio in the fertile controls was 0.9-1.09 (mean 0.96 + 0.043). Besides, autosomal chromosome variants were observed in 6 (6.8%) infertile men (Tables I, II) (Figs 4c, 4d). Inversion of chromosome 9 is a polymorphism but was included in Table I for the sake of completeness. The heterochromatin area was increased in chromosomes 9 and 16. NOR staining of chromosome 22 showed it to be only satellite (22ps+). Aberration in the heterochromatin region of the Y chromosome was the most frequently identified polymorphism in 27 (30.7%) infertile men. Among 3 (3.4%) men the Y/F index ratio was >1 (Fig. 3e) and in 24 (27.3%) males the Y chromosome was smaller than the G group chromosomes (Table II) (Fig.3c). The Y/F index ratio in the fertile controls was 0.9-1.09 (mean 0.96 + 0.043). Besides, autosomal chromosome variants were observed in 6 (6.8%) infertile men (Tables I, II) (Figs 4c, 4d). Inversion of chromosome 9 is a polymorphism but was included in Table I for the sake of completeness. The heterochromatin area was increased in chromosomes 9 and 16. NOR staining of chromosome 22 showed it to be only satellite (22ps+). PCR Among analysis the for 88 the infertile detection men, of AZF the microdeletions spouses of 64 showed undertooke deletion the in ICSI the cycle. AZFc (sY254, Fertilization sY255) rate region and along pregnancy with deletion rate were of the 57.8 heterochromatin and 15.6 (sY160) per cent in only respectively. 1 male who presented with a karyotype of 46,X,delY(q11.2) on cytogenetic analysis. C banding in the same patient showed that the Y chromosome was not idic Yp. Y chromosome microdeletions were not observed in other men. Among the 88 infertile men, the spouses of 64 undertooke the ICSI cycle. Fertilization rate and pregnancy rate were 57.8 and 15.6 per cent respectively. The Among overall numerous occurrence aetiologic factors, of 10.2 chromosomal per cent constitutional abnormalities abnormalities play a prime role was in observed male infertility in our study. with The abnormal occurrence semen parameters. of karyotypic Our abnormalities results demonstrated among infertile an inverse men depends correlation on a number between of factors; chromosomal the most anomalies and sperm count. The exact mechanism by which chromosomal anomalies induce infertility is not clear. It is likely that the presence of abnormally distributed chromatin interferes with meiotic division and thus reduces sperm production. Spermatozoa bearing abnormal chromosomes may cause abnormal embryonic development, which can in turn, cause early pregnancy loss 13 . The overall occurrence of 10.2 per cent constitutional abnormalities was observed in our study. The occurrence of karyotypic abnormalities among infertile men depends on a number of factors; the most Sex chromosome abnormalities are the most frequent chromosome-related cause of infertility. In our study, we found one man with 47,XXY karyotype i.e ., Klinefelter’s syndrome. This abnormality is associated with severe spermatogenic failure causing a marked reduction in testicular size and azoospermia resulting in infertility 13 . A mosaic 46,XY/47,XYY/ 47,XXY karyotype was found in one azoospermic male. Infertile men with gonosomal mosaicism have a range of spermatogenic profile ranging from severe impairment to apparent normality 16 . Gonosomal mosaicism may be a probable cause for the failure of assisted reproduction 17 . A deletion in the long arm of the Y chromosome was seen in one patient. Studies have indicated that deletions on the long arm of the Y chromosome involving a particular and consistent segment might lead to azoospermia 18 and sometimes to severe oligozoospermia 19 . There have been reports of vertical transmission of Yq deletions to the offspring via ICSI 20 . Two cases of inversion of Y chromosome were observed in our study. Pericentric inversion of Y chromosome is reported to be more prevalent among infertile men than in newborns 21 . A study on inversion of the Y chromosome in the Gujarati Muslim Indian population of South Africa failed to show any impairment in their reproductive fitness 22 . important Sex A relationship chromosome of these being between abnormalities the criterion balanced for are selection autosomal the most of patients frequent translocation based chromosome-related and on the infertility sperm counts. has cause been The of reported infertility. frequency 13 . In of A chromosomal single our study, case we of found abnormalities azoospermic one man ranged male with 47,XXY with from Robertsonian 2.2 karyotype per cent in ...
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Background: Nowadays most upcoming disease that affecting 8 to 12% of the world population is Infertility.The affected area of this problem have no bar irrespective of metro cities as well as small towns population..Modern treatment with steroids and other medication and interventions shows limited results.Bastichikitsa itself is the best remedies...
This study evaluated pregnancy results after fresh and frozen embryo transfer in males with infertility due to non-obstructive azoospermia and oligoasthenoteratozoospermia. In this retrospective study, a total of 801 embryo transfer cycles were followed up, including 423 fresh embryo transfers and 378 frozen embryo transfers in which intracytoplasm...
Currently, no published data exist about the gonadal function of children born after ICSI. To evaluate potential risk of testicular seminal dysfunction in boys born to fathers with compromised spermatogenesis, serum inhibin B (as a marker for spermatogenesis) was assessed.
We recruited 50 pubertal adolescents from the oldest cohort of infants born...
Some men with non-obstructive azoospermia harbour fully formed spermatozoa within their testicular tissue that can be used to achieve pregnancy via intracytoplasmic sperm injection (ICSI). Recently, Reijo et al. (1995) provided compelling evidence that the DAZ gene cluster is a strong candidate for one of the elusive azoospermia factors (AZF) locat...
To illustrate the importance of genetic screening in the assessment of fertility and the correct diagnosis in patients with azoospermia or severe oligospermia.
This study examined 500 patients with reproductive failure, having fewer than 5 million sperm/mL detected in at least 2 consecutive spermiograms, who presented at a medical genetics polyclin...
Citations
... The prevalence in our study was 0.26% in Chinese men and 0.17% in men with adverse pregnancy outcomes. Nagvenkar P et al. reported that the detection rate of the Yqh-variant was as high as 27.27% (24/88) in azoospermia and severe oligospermia [43]. Guo T, et al. reported that 40% of patients with the Yqh-variant had azoospermia [44]. ...
To investigate the prevalence of Y chromosome polymorphisms in Chinese men and analyze their associations with male infertility and female adverse pregnancy outcomes.
The clinical data of 32,055 Chinese men who underwent karyotype analysis from October 2014 to September 2019 were collected. Fisher’s exact test, chi-square test, or Kruskal–Wallis test was used to analyze the effects of Y chromosome polymorphism on semen parameters, azoospermia factor (AZF) microdeletions, and female adverse pregnancy outcomes.
The incidence of Y chromosome polymorphic variants was 1.19% (381/32,055) in Chinese men. The incidence of non-obstructive azoospermia (NOA) was significantly higher in men with the Yqh- variant than that in men with normal karyotype and other Y chromosome polymorphic variants (p < 0.050). The incidence of AZF microdeletions was significantly different among the normal karyotype and different Y chromosome polymorphic variant groups (p < 0.001). The detection rate of AZF microdeletions was 28.92% (24/83) in the Yqh- group and 2.50% (3/120) in the Y ≤ 21 group. The AZFb + c region was the most common AZF microdeletion (78.57%, 22/28), followed by AZFc microdeletion (7.14%,2/28) in NOA patients with Yqh- variants. There was no significant difference in the distribution of female adverse pregnancy outcomes among the normal karyotype and different Y chromosome polymorphic variant groups (p = 0.528).
Patients with 46,XYqh- variant have a higher incidence of NOA and AZF microdeletions than patients with normal karyotype and other Y chromosome polymorphic variants. Y chromosome polymorphic variants do not affect female adverse pregnancy outcomes.
... Most of the carriers of these polymorphisms were from the asthenozoospermic group. According to previous studies, chromosomal polymorphism varies between 7.9% [30] and 58.68% [31][32][33][34] of infertile men in different populations. Chromosomal polymorphism represents an altered length of the constitutive heterochromatin on the long arms of chromosomes 1, 9, and 16, or at the satellites of the acrocentric chromosomes from the D/G groups. ...
The aim of our study was to determine the type and frequency of chromosomal aberrations and polymorphisms in men with different degrees of spermatogenic failure in comparison to men with normozoospermia, in order to find correlations between cytogenetic findings and the abnormal results of semen analysis. In our study, we performed cytogenetic analysis in 901 infertile men, divided into five groups according to semen analysis—normozoospermia (86), asthenozoospermia (394), oligoasthenozoospermia (182), severe male factor (100), and azoospermia (139). The frequency of polymorphisms was similar in all groups (11–16%, without significant differences). The frequency of numerical and structural aberrations increases with the degree of the spermatogenic failure (3.5% in normozoospermia, 5.6% in asthenozoospermia, 9.8% in oligoasthenozoospermia, 9% in severe male factor, and 13.5% in azoospermia). We found a significantly higher incidence of numerical chromosomal aberrations in severe male factor (7%) and azoospermia (9.3%). Oligoasthenozoospermia occured in 45% of cases with translocation, compared to 20% in the group with a normal karyotype. We revealed that chromosomal translocations are tightly associated with oligoasthenozoospermia, whereas numerical chromosomal aberrations—with severe male factor and azoospermia. The impact of chromosome polymorphisms on male infertility should be studied in greater detail.
... Many genetic or non-genetic causes, especially chromosomal abnormalities, have been shown to be the primary cause of infertility in 30-50% of couples (2)(3)(4)(5)(6). Structural and numerical chromosomal abnormalities have been reported as the cause of male infertility in 10-23.62% of men with azoospermia and in 1.10-13.33% of men with oligospermia (7)(8)(9)(10)(11)(12). Klinefelter syndrome (KS) and deletion of critical AZF regions of the Y chromosome are among the most common genetic abnormalities seen in men with azoospermia and severe oligospermia. ...
Purpose A number of mechanisms have been proposed for the effect of chromosomal translocations on spermatogenesis and sperm maturation. However, there are still numerous ambiguous issues regarding these two processes. The aim of this study is to evaluate the effect of chromosome break areas on sperm count in the light of the literature. Material and Methods The study was conducted on the data of 16 male patients with reciprocal or Robertsonian translocation among 152 patients who were admitted to Adana Numune Training and Research Hospital and Kanuni Sultan Süleyman Training and Research Hospital Genetic Diagnosis Centers between 2013 and 2016 due to azoospermia and oligospermia. Results 11 of these patients had reciprocal and five patients had Robertsonian translocations. All the patients with Robertsonian translocations were detected with azoospermia. Of the patients with reciprocal translocation, five of them were azoospermic and six of them were severe oligospermic. Conclusion A total of 21 chromosomal breakpoints were identified in the 11 patients with reciprocal translocations. These chromosomal breakpoints may contribute to the clarification of ambiguous issues related to spermatogenesis and sperm maturation. The results also showed the importance of genetic counselling in patients with translocations.
... Semen Analysis: During semen analysis; fresh semen obtained after at least 48 hours of sexual avoidance is evaluated. The number, motility, and morphological structure of sperm are determined by these analyzes [12]. ...
Total globozoospermia is diagnosed by the presence of 100% round-headed spermatozoa without acrosomes. It is still unclear whether patients whose ejaculate contains both normal and globozoospermic cells (partial globozoospermia) suffer from a variation of the same syndrome. Affected men may experience decreased fertility and even infertility. In some cases, an increased number of cells with DNA fragmentation has also been observed in patients with globozoospermia..In this study, standard semen analysis methods in accordance with WHO criteria were applied to infertile male patient groups consisting of 20 normozoospermic and 20 oligozoospermic individuals who were admitted to our clinic. Age, sperm parameters (volume, vitality, concentration, total motility and morphology) were determined and statistically analyzed in normozoospermic and oligozoospermic infertile men.Sperms were stained with the Eosin-Nigrosin method and were visualized under an immersion lens light microscope and evaluated for vitality. The slides were stained using sperm staining solutions with the Spermac technique and the sperms were evaluated morphologically. Sperm DNA fragmentation damage was evaluated by acridine orange staining method.Our results revealed that sperm morphological features (Kruger test) and sperm DNA fragmentation, obtained with various staining techniques, are important in the clinical approach to male infertility and ART methods, and should be used together.
... The incidence of autosomal chromosomal abnormalities ranges from 1.1 to 7.2% among the infertile males [5-9], and represents 10% among the infertile females [10]. Within males, chromosomal abnormalities are reported with oligospermia and azoospermia [11][12][13][14][15][16][17]. Within females, chromosomal abnormalities contribute in the development of repeated abortions, primary ovarian failure, and XX gonadal dysgenesis [18]. ...
Background
Chromosomal abnormalities represent an important cause of human infertility. Little is known about the prevalence of chromosomal abnormalities among Egyptian couples with infertility. We estimated the cytogenetic profiles and semen analysis patterns among infertile couples. We analyzed data from medical archives of 2150 patients with infertility in Mansoura University Children’s Hospital, Egypt from 2015 to 2019. The data included karyotypes and semen analysis reports.
Results
Chromosomal abnormalities were reported in 13.5% of infertile patients (290/2150); 150 out of 1290 (11.62%) males and 140 out of 860 (16.28%) females. Within the infertile males, the numerical chromosomal abnormalities were detected in 134/1290 (10.38%) males, and structural abnormalities were found in 16/1290 (1.24%) males. Within the infertile females, numerical sex chromosome abnormalities were detected in 75/860 (8.72%) females, structural sex chromosome abnormalities were found in 31/860 (3.6%) females, mosaicism of the sex chromosome was found in 22/860 (2.56%) females, and male pseudohermaphrodites were detected in 12/860 (1.39%) females.
Conclusions
Numerical chromosomal aberrations are the most frequent patterns among infertile couples. Attention should be paid to the traditional chromosomal analysis as an important diagnostic step in the infertility work-up.
... The overall prevalence of somatic MCA was 16%, excluding PVs, which is in concurrence with another Indian study. [17] In azoospermic men, the prevalence of MCA was 14.8%, which was also similar to other European studies. [18,19] Usually, males with azoospermia (n = 81) have higher rate of MCA as compared to oligozoospermia, though in our study frequency was higher in the latter group (21.6%) due to a smaller sample size (n = 19). ...
Background:
Primary infertility is a common occurrence which affects approximately 15% of couples who desire to begin their family. Chromosomal abnormalities are well-established causes of pregnancy loss but may also have a role in explaining the cause of male infertility, especially with nonobstructive semen abnormalities. Hence, awareness regarding safety of artificial reproductive technology in these individuals due to underlying sperm aneuploidy is required.
Aims:
The aims of the study are to determine the prevalence of chromosomal abnormalities in primary infertile males with nonobstructive semen abnormalities and correlate with their endocrine profile.
Study design:
A case-control study, in which 100 males with primary infertility and non-obstructive semen abnormalities were evaluated for chromosomal abnormality and hormonal profile; and were compared with 50 healthy males with normal semen analysis and at least one biological child.
Materials and methods:
Blood T-lymphocytes were cultured using RPMI-1640 medium for obtaining metaphases and chromosomal analysis.
Statistical analysis:
SPSS software and Student's t-test were used. A p < 0.05 was considered statistically significant.
Results:
Azoospermia (81%) was the most common nonobstructive semen abnormality. Overall prevalence of major chromosomal abnormalities and polymorphic variants was 16% and 7%, respectively. Klinefelter syndrome was the most common sex chromosomal numerical abnormality seen in 6.17% of cases with azoospermia. All healthy control males had 46, XY karyotype. Higher levels of follicle-stimulating hormone and luteinizing hormone and lower levels of testosterone along with testicular volumes were observed in infertile males with abnormal karyotype (p < 0.05).
Conclusion:
Primary infertile males with nonobstructive semen abnormality have high frequency of chromosomal aberrations, which justify the requirement of cytogenetic testing in these patients.
... This reproductive-related disorder is classified as obstructive azoospermia (OA), induced by ejaculatory pathway obstruction, and non-obstructive azoospermia (NOA) caused by a failure in spermatogenesis (3). NOA is a disorder of genetic origin that is represented as a failure of spermatogenesis within the testis, including various reasons, such as chromosomal abnormalities and Y chromosome microdeletions (4). This phenotype has different causes (affecting various functions, such as differentiation of gonads, the activity of the hypothalamic-pituitary axis, and spermatogenesis), making it a complex and heterogeneous disorder (5). ...
Background: Male factor infertility that is the cause of about half of the infertility cases, may occur due to azoospermia. Because spermatogenesis defects may lead to non-obstructive azoospermia (NOA), investigating the factors involved in spermatogenesis, including hormones and genes, is one of the most important aspects in understanding the mechanism of NOA in men. Objectives: Male infertility is a complex disorder that affects a large proportion of men, yet many of its causes are unknown. Clarifying its genetic basis may help to identify the causes of infertility and provide effective treatment for patients. Methods: In this case-control study, single nucleotide polymorphisms (SNPs) located in the USP9Y gene were investigated. Accordingly, 100 healthy men and 100 NOA patients were regarded as control and case groups, respectively. Testis tissue samples were taken during the testicular sperm extraction (TESE) procedure, DNA extraction was done, and ARMS PCR was designed and performed. The rs3212292, rs2032597, rs2032604, rs2032598, and rs717268 polymorphisms in the USP9Y gene were analyzed by Tetra-ARMS PCR. Furthermore, the serum levels of sex hormones were assessed by the ELISA technique. Finally, the obtained data were analyzed by SPSS software. Results: According to the obtained results, there was no significant difference in case of genotype frequency of investigated SNPs between the case and control groups (P ≥ 0.05). The mean FSH and LH levels in the control group were relatively lower than the case group (P ≤ 0.05), whereas no significant difference in the mean testosterone level was observed between the two groups (P ≥ 0.05). Conclusions: Polymorphisms of the assessed SNPs showed no effect on the frequency of azoospermia; thus, polymorphisms did not increase the risk of NOA and also did not have a protective effect against the disease. Also, the results showed that the serum levels of FSH and LH increased in NOA patients.
... The most common CH found in this study involved pericentric inversions of chromosome 9 (31.2%); in second, variants in detectable regions of the Y chromosome (22.9%). According to the literature, chromosome 9 pericentric inversions are the most frequent CH in infertile patients, but also in the general population, followed by 9qh+ and 9qh-variants (Ferguson-Smith, 1974;Verma et al., 1978;Humphray et al., 2004;Codina-Pascual et al., 2006;Collodel et al., 2006;Penna Videaú et al., 2001;Nagvenkar et al., 2005;Ferguson et al., 2007;Sarrate et al., 2014;García-Peiró et al., 2011a;2011b). Although some studies have addressed the potential associations of CH on fertility treatments, our study found no differences in ovarian stimulation parameters, number of oocytes retrieved and fertilization rates during IVF/ICSI cycles. ...
... Moreover, we excluded clinical diagnoses associated with a significant increase in aneuploid embryos during ART such as carriers of balanced translocations, inversions, mosaicisms, or known pathogenic polymorphisms (Petracchi et al., 2009;Warburton & Fraser, 1964;Hassold et al., 1980). Concordant to previous published studies, we excluded patients with severe male factor utilizing testicular sperm extraction, these group of patients had been previously reported to be associated with a higher frequency of Y chromosome variants compared to fertile men (Morales et al., 2016;Penna Videaú et al., 2001;Nagvenkar et al., 2005;Guo et al., 2012) and with an increased rate of sperm aneuploidy (Yakin et al., 2005;Morales et al., 2016;Ferguson et al., 2007;García-Peiró et al., 2011a;2011b;Mozdarani et al., 2007;Minocherhomji et al., 2009); both contributors to an increased risk of embryonic aneuploidy. Finally, our study utilized an adjusted multivariate analysis fitted with a GEE that accounted for patients who underwent multiple cycles and controlled for other potential cofounders (i.e. ...
... The relatively high incidence of CH observed in infertile patients demands the need to evaluate the potential associations with infertility and subfertility. The relationship between 'normal' CH and reproductive outcome remains highly contested; epigenetic, genetic, and chromosomal modifications have been associated with infertility and poor reproductive outcomes (Morales et al., 2016;Collodel et al., 2006;Penna Videaú et al., 2001;Nagvenkar et al., 2005;Ferguson et al., 2007;Sarrate et al., 2014;García-Peiró et al., 2011a;2011b). However, the findings of our study showed that there is no association between parental CH and increased risk of embryonic aneuploidy. ...
Objective:
Although chromosomal heteromorphisms are commonly found in the general population, some researchers have suggested a correlation with higher rates of embryo aneuploidy. This study aimed to assess the rates of embryo aneuploidy in couples who carry a chromosome heteromorphism.
Methods:
The study included couples who had G-banding karyotype testing and underwent an IVF/PGT-A cycle between January 2012 and March 2018. The participants were classified by couple karyotype: Group A: ≥1 patient reported to be a heterochromatic variant carrier; Group B: both partners reported to be "normal". We assessed the rates of aneuploidy among the groups. We ran a multivariate regression analysis to assess the relationship between heterochromatic variants and the rates of embryo aneuploidy.
Results:
Of the 946 couples analyzed, 48 (5.0%) reported being a carrier of ≥1 heterochromatic variant. We had 869 IVF/PGT-A cycles included in the analysis (Group A: n=48; Group B: n=82). There were no significant differences in embryo ploidy rates among the groups. The heterochromatic chromosome variant was not associated with increased likelihoods of aneuploidy (OR=1.04, CI:95% 0.85- 1.07; p=0.46). Finally, the gender of the heterochromatic variant carrier had no association with increased likelihood of aneuploidy (OR 1.02, CI 95% 0.81-1.28, p=0.82).
Conclusions:
Our study showed no association between parental heterochromatic chromosome variants and subsequent embryo aneuploidy rates. Ploidy rates do not appear to be negatively associated with couples when at least one patient is reported to be a carrier of a heterochromatic variant on the karyotype.
... During meiosis, the pairing and synapsis of X and Y chromosomes are influenced by the DNA repeats at specific regions of the Y chromosome, which may decrease the reproductive capacity. [36,37] In the present study, although we have detected an increased ratio of chromosomal polymorphic variations and Robertsonian translocations they could not be regarded as the sole reason to govern reproductive failures. We believe molecular studies on similar lines would aid in establishing more certain roles of heterochromatin and chromosomal polymorphic variations that have not been realized yet. ...
Background:
Human reproduction is the most intricate event as ~ 20% of human pregnancies end in miscarriages for which chromosomal anomalies are a common factor. The chromosomal variations associated with reproductive failures include translocations, inversions, supernumerary marker chromosomes, heterochromatic polymorphisms, etc., Till date, the significance of heteromorphic variants in reproductive failures is unclear.
Aim:
The aim of this study is to investigate the role of chromosomal anomalies and polymorphic variations in reproductive failure.
Materials and methods:
Chromosomal analysis using GTG banding was performed on 638 couples (1276 individuals).
Results:
In the present study, 138 of 1276 individuals showed chromosomal variations with respect to heterochromatic variants and Robertsonian translocations. The most common variants observed across the population studied were the pericentric inversion of the chromosome 9 [inv(9)(p11q13), 3.68%] followed by pstk + on the short arm of chromosome 15 (15pstk+, 1.95%) and Robertsonian translocation of chromosomes 13 and 14 [rob(13;14)(q10;q10), 1.25%]. The maximum percentage of heterochromatic variation was observed in females with recurrent pregnancy loss (Groups A, 4.78%) and males with wives having recurrent miscarriages (Group B, 3.68%) and the minimum was recorded in patients with in vitro fertilization (IVF) failures (Group C, 0.23%) and couples having a history of the malformed child (Group F, 0.23%).
Conclusions:
High level of chromosomal polymorphic variations in patients with reproductive failures warrants their in-depth analysis to nail down the causative factors. Hence, cytogenetic analysis coupled with genetic counseling becomes indispensable for patients suffering from infertility, reproductive failures and pregnancy losses before IVF treatment to rule out the carrier status.
... Genetic abnormalities are reported to cause about 10% of male infertility and we found a similar percentage of abnormalities in our cohort. 23,24 Identification of these abnormalities helps counsel couples and can prevent the transmission of genetic disorders in the foetus. ...
Background:
. Although the outcomes of assisted reproductive technologies (ART) and corrective surgery for male infertility are reported in the literature, these are based on studies specifically designed to assess the outcomes of individual interventions and do not reflect the real-life (intent-to-treat) outcomes of managing infertility. There are sparse data on the actual utilization of treatment and pregnancy outcomes in these patients. We aimed to evaluate the demographics, aetiology, treatment utilization and outcomes of treatment of male infertility in a tertiary care centre.
Methods:
. We prospectively enrolled 447 infertile males for evaluation over 30 months beginning October 2015. All patients were evaluated and investigated as per the study protocol to identify the cause of infertility. The patients were advised interventions based on the diagnosis and were followed up to assess delivery of treatment and outcomes of interventions in terms of pregnancy rates.
Results:
. Of the 447 enrolled patients, 426 (mean age 31 years) completed the initial diagnostic evaluation. About 83% had primary infertility, 40% had oligo/astheno/ teratozoospermia, 40% had azoospermia, and 21.1% had obstructive azoospermia. Genetic abnormalities were detected in 9.3% of the 162 patients screened. ART was advised for 71.8% of patients, but only 18% of patients actually received the treatment though they had a high success rate (38%). In contrast, surgery was recommended to only 35 (8.2%) patients, but only 18 (58%) received the recommended treatment with a pregnancy rate of 33.3%. Overall, only 24.4% of patients received the advised treatment with a pregnancy rate of 36.8%.
Conclusions:
. ART was the most common intervention recommended, but less than one-fourth of couples received the recommended treatment. Surgery is indicated in a small number of patients, but is delivered to a larger proportion than those advised ART with both modalities having similar pregnancy outcomes.
