scholarly journals Prevalence of Abnormal Karyotypes among Males with Non-obstructive Azoospermia and Severe Oligozoospermia: A Retrospective Study

2021 ◽  
Author(s):  
Priya Narayanan ◽  
PR Ashalatha
Keyword(s):  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Semen Analysis ◽  
Marker Chromosome ◽  
Gene Mutations ◽  
Obstructive Azoospermia ◽  
Transmembrane Conductance Regulator ◽  
Severe Oligozoospermia ◽  
Polymorphic Variants ◽  
Specific Disorders

Introduction: Chromosomal abnormalities are one of the important causes of male infertility. Numerical and structural chromosomal abnormalities are seen frequently in men with azoospermia and severe oligospermia. Other abnormalities include Y Chromosome Microdeletions (YCMD), Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations affecting the internal ductal system, genes affecting sperm function and other non-specific disorders. Upto 14% of the men with azoospermia and severe oligospermia have karyotypic abnormalities. Aim: To determine the prevalence of abnormal karyotypes among men with azoospermia and severe oligozoospermia (<5 million/mL). Materials and Methods: The present study was a retrospective observational study carried out at the Fertility Clinic, Institute of Maternal and Child Health, Calicut, Kerala, India, on patients who attended the Infertility Department between January 2016 to December 2019. Semen analysis was done on 232 patients with 100 patients of azoospermia and 132 patients of oligozoospermia. Karyotyping was done from the Cytogenetics Unit, Department of Anatomy. The data was entered in MS excel sheet and analysed and results were expressed in percentage. Results: Chromosomal abnormalities were detected in 35 (35%) of 100 azoospermia and 15 (11.3%) of 132 severe oligospermia cases analysed. Klinefelter syndrome was the most common abnormality detected in azoospermia (22/35). A 46XX was found in two cases. Structural abnormalities were detected in three case (46 X, der X, 46XY der Chr 1 and Chr 9 inversion). Small Y was found in three cases. Polymorphic variants were found in five patients (46XY 15pstk+, 46XY 15ps+, 46XY 1qh+, 46XY 9qh+). Small Y was found in one case. In oligozoospermia, autosomal translocations were found in four cases {46XY, t(11;13)(q21;q21.2), 46XY, t(1;9) (p13;p21), 46XY, t(13;15)(q34;q21), 46XY, t(7,14) (q34:q11)}, Derivative (46XY der 15) and Marker chromosome (47XY+mar) in one case each. Klinefelter syndrome was found in two cases and 48XXYY was found in one patient. Polymorphic variants were found in five cases (46XY 21pstk,46XY 15ps+, 46XY 1qh-, 48XY 9qh+). Small Y was found in one case. Conclusion: Sex chromosomal and autosomal abnormalities are found frequently in azoospermia and severe oligospermia and hence, genetic screening and counseling before Intracytoplasmic Sperm Injection (ICSI) is warranted.

Detection Y Chromosome Microdeletions Among Iraq Population in Infertile Patients with Azoospermia and Severe Oligospermia

2019 ◽  
Vol 9 (02) ◽  
Author(s):  
Samah A Hammood ◽  
Alaauldeen S M AL-Sallami ◽  
Saleh M Al-Khafaji
Keyword(s):  
Y Chromosome ◽  
Karyotype Analysis ◽  
Semen Analysis ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Detailed Evaluation ◽  
Health Organization ◽  
Infertile Patients

Objective: To detection of microdeletions of Y chromosome and study the frequency of microdeletions in infertile men with non-obstructive azoospermia or severe oligozoospermia(Middle Euphrates center)in Iraq population. Material and methods: 153 males were included in the study, the casesweredivided into groups according to the infertility etiology and semen analysis according to Word health organization, the frequencies and the characteristicsof Y chromosome microdeletions were investigated in groups. Multiplex PCR was applied to detect the microdeletions. Results:Y chromosome microdeletion was detected in 42 (40.7%) of 153 cases ,Microdeletions in azoospermia showed more frequently detected 28 (52.8%), followed by severe oligospermia 14 (28 %),Microdeletions in the AZFc region were the most common 12 (22.64%), followed by AZFb 11(20.75%) and AZFa 5(9.43%) in azoospermia compared to severe oligospermisAZFc 6 (12%) AZFb 4 (8 %) and AZFa 4 (8%). Conclusion: Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluationsand when required, karyotype analysis may predict the patients for whom Y chromosome microdeletionanalysis is necessary and also prevent cost increases. Recommendation: This study emphasizes that analysis of microdeletions should be carried out for all patients with idiopathic azoospermia and severe oligospermia who are candidates for intracytoplasmic sperm injection

scholarly journals Study on clinical and genetic characteristics of male patients with non-obstructive azoospermia

2021 ◽  
Vol 141 (5) ◽  
pp. 39-45
Author(s):  
Nguyen Hoai Bac ◽  
Hoang Long
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Obstructive Azoospermia ◽  
Genetic Characteristics ◽  
Azfc Deletion ◽  
Genetic Abnormalities ◽  
History Of ◽  
Male Patients ◽  
Infertile Patients

We examined 501 patients with non - obstructive azoospermia to evaluate clinical, subclinical, and genetic characteristics. The results show that the average age of patients in the study was 29.8 ± 5.5 years. Primary infertility accounts for the majority, with a rate of 90.3%. There was 38.6% of patients had a history of mumps orchitis. The average levels of FSH, LH, testosterone were 31.6 ± 16.5 mIU/mL, 15.5 ± 10 mIU/mL and 12.8 ± 7.13 nmol/L, respectively. The prevalence of chromosomal abnormalities was 30.7%. Of these, the sex chromosome aneuploidy with 47,XXY karyotype (Klinefelter syndrome) accounted for 27.3%. The incidence of AZF microdeletion was 13.8%. Of these, AZFc deletion was the most common at the rate of 42.1%, AZFa deletion, which accounted for 2.6%, were the least prevalent, and the frequency of AZFd deletion was 5.3%. However, there was no solitary AZFb deletion, which combined with other AZF deletions with 34.2%. Our research shows that mumps orchitis and chromosomal abnormalities are the leading causes of azoospermia. Screening for genetic abnormalities plays an important role in infertile patients with non - obstructive azoospermia.

scholarly journals Multicenter study of genetic abnormalities associated with severe oligospermia and non-obstructive azoospermia

2017 ◽  
Vol 46 (1) ◽  
pp. 107-114 ◽  
Author(s):  
Chong Xie ◽  
Xiangfeng Chen ◽  
Yulin Liu ◽  
Zhengmu Wu ◽  
Ping Ping
Keyword(s):  
Genetic Testing ◽  
Male Infertility ◽  
Multicenter Study ◽  
Chromosomal Abnormalities ◽  
Eastern China ◽  
Genetic Defects ◽  
Obstructive Azoospermia ◽  
Assisted Reproductive Technique ◽  
Severe Oligozoospermia ◽  
Genetic Abnormalities

Objective * Chong Xie, Xiangfeng Chen, and Yulin Liu contributed equally to this work. Genetic defects are identified in nearly 20% of infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility helps inform appropriate genetic counseling before assisted reproductive techniques. Methods Cytogenetic results of 912 patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOS) in Eastern China were reviewed in this multicenter study from January 2011 to December 2015. Controls were 215 normozoospermic men with offspring. Results Among all patients, 22.6% (206/912) had genetic abnormalities, including 27.3% (146/534) of NOA patients and 15.9% (60/378) of SOS patients. Chromosomal abnormalities (all autosomal) were detected in only 1.9% (4 /215) of controls. In NOA patients, sex chromosomal abnormalities were identified in 25.8% (138/534), of which 8% (43/534) had a 47,XXY karyotype or its mosaic; higher than the SOS group prevalence (1.1%; 4/378). The incidence of Y chromosome microdeletions was lower in the SOS group (13.2%; 50/378) than in the NOA group (17.8%; 95/534). Conclusions The high prevalence of genetic abnormalities in our study indicates the importance of routine genetic testing in severe male infertility diagnosis. This may help determine the choice of assisted reproductive technique and allow specific pre-implantation genetic testing to minimize the risk of transmitting genetic defects.

scholarly journals The genetic basis of infertility

Reproduction ◽  
2003 ◽  
pp. 13-25 ◽  
Author(s):  
K Shah ◽  
G Sivapalan ◽  
N Gibbons ◽  
H Tempest ◽  
DK Griffin
Keyword(s):  
Genetic Basis ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Single Gene ◽  
Chromosome Translocations ◽  
Susceptibility To Infection ◽  
Single Gene Disorders ◽  
Males And Females ◽  
One Year ◽  
Specific Disorders

Infertility is defined as the inability to conceive after one year of regular unprotected intercourse; approximately one in six couples wishing to start a family fall into this category. Although, in many cases, the diagnosis is simply 'unexplained', a variety of reasons including lack of ovulation, mechanical stoppage, sperm deficiencies and parental age have been implicated. It is difficult to assess accurately the overall magnitude of the contribution of genetics to infertility as most, if not all, conditions are likely to have a genetic component, for example susceptibility to infection. Nevertheless, a significant number of infertility phenotypes have been associated with specific genetic anomalies. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. Some genetic factors influence males specifically, whereas others affect both males and females. For example, chromosome translocations affect both males and females, whereas Klinefelter syndrome and the subsequent infertility phenotype caused by it are specific to males. This article reviews current research in the genetic basis of infertility; gender-specific disorders and those affecting both sexes are considered.

scholarly journals The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients

2014 ◽  
Vol 8 ◽  
pp. CMRH.S15475
Author(s):  
Gleice Cristina dos Santos Godoy ◽  
Bianca Borsatto Galera ◽  
Claudinéia Araujo ◽  
Jacklyne Silva Barbosa ◽  
Max Fernando De Pinho ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Culture Technique ◽  
Common Finding ◽  
Infertile Couple ◽  
Severe Oligozoospermia ◽  
Cross Sectional ◽  
Mato Grosso ◽  
Factor C

Objective To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil. Methods This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique. DNA from each sample was extracted using non-enzymatic method. Microdeletions were investigated by polymerase chain reaction (PCR). Results With the use of cytogenetic analysis, five patients (5.3%) had abnormal karyotype, one azoospermic patient (1.1%) had karyotype 46,XY,t(7;1) (qter-p35), one (1.1%) with mild oligozoospermia had karyotype 46, XY, delY(q), and two other azoospermic patients had karyotype 47,XXY, consistent with Klinefelter syndrome (KS). One of them (1.1%) with severe oligozoospermia had karyotype 46,XY,8p+. Microdeletion on Y chromosome was found in the azoospermia factor c (AZFc) region in only one azoospermic patient (1.1%). Conclusions The prevalence of genetic abnormalities in oligo/azoospermic Brazilian men from infertile couple was 5.3%, and microdeletion on Y chromosome was not a common finding in this population (1.1%).

scholarly journals Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Asal Gailan Abdul-Qadir ◽  
Bassam Musa Al-Musawi ◽  
Rabab Farhan Thejeal ◽  
Saad Abdul-Baqi Al-Omar
Keyword(s):  
Cystic Fibrosis ◽  
Molecular Analysis ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Regional Studies ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Multisystem Disease ◽  
Polymorphic Variants ◽  
Cystic Fibrosis Transmembrane

Abstract Background Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria. Results The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries. Conclusion Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

scholarly journals The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population

2021 ◽  
pp. 159-164
Author(s):  
Yavuz Onur Danacıoglu ◽  
Mustafa Gürkan Yenice ◽  
Fatih Akkas ◽  
Mustafa Soytas ◽  
Serhat Seyhan ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Assisted Reproductive Techniques ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Genetic Causes ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Reproductive Techniques

Objective: Advances in the science of genetics and the development of assisted reproductive techniques focus on the genetic causes of infertility. The aim of this research is to reveal genetic abnormalities in terms of sex chromosome aneuploidy and Y chromosome microdeletions. Material and Methods: A total of 350 patients with azoospermia or severe oligozoospermia were selected. After general examination of the patients and laboratory investigations were performed, cartoypes and Y chromosome microdeletions were examined. Results: A total of 225 infertile men with non-obstructive azoospermia (NOA) and 125 infertile men with oligozoospermia were enrolled into the study. The overall cytogenetic anomaly rate was 16%. Chromosomal changes were detected in 32 of 350 (9.1%) cases. The most common genetic anomaly was 47, XXY (Klinefelter syndrome) and the incidence was 11.5% in NOA group. This rate was 3.2% in oligozoospermia group. Y chromosome microdeletions were detected in 24 (6.8%) patients and similarly, it was observed more frequently in the NOA group than in the oligozoospermia group. Conclusion: The incidence of genetic causes have been increasing with the severity of infertility. As a result, genetic screening and appropriate genetic counseling are needed before the use of assisted reproductive techniques. Keywords: azospermia, chromosome, infertility, microdeletion, oligozoospermiaage

Disturbed spermatogenesis

2011 ◽  
pp. 1393-1398
Author(s):  
Claus Rolf ◽  
Eberhard Nieschlag
Keyword(s):  
Semen Analysis ◽  
Serum Levels ◽  
Testicular Biopsy ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Testicular Sperm ◽  
Severe Oligozoospermia ◽  
Ultrasonographic Examination ◽  
Additional Information ◽  
Accessory Glands

In general, male fertility can be assessed using semen analysis, sex hormone levels and markers of accessory glands. Additional information can be obtained by examining testicular size, and especially by ultrasonographic examination of the testes. Follicle-stimulating hormone (FSH) is the classical endocrine parameter used to discriminate between testicular impairment and obstructions of the efferent ducts; however, a complete Sertoli-cell-only syndrome (SCO syndrome) can be found even in biopsies of patients with normal FSH serum levels and normal testicular volume (1). Moreover, since testicular exploration with sperm extraction (TESE) has become a means of treating patients with azoospermia, the importance of testicular biopsies has increased. To date, it is impossible to predict with accuracy the probatility of recovering mature spermatids via TESE, or to reliably distinguish obstructive azoospermia from nonobstructive azoospermia, even with the most advanced endocrine and genetic tests. At present, testicular biopsy is a therapeutic and diagnostic procedure, in combination with testicular sperm extraction and cryopreservation of testicular sperm (Chapter 9.3.6). Indications for testicular biopsy are azoospermia, necrozoospermia or severe oligozoospermia, and suspicous intratesticular lesions noted during ultrasonographic examination (2). Techniques for appropriate histological analysis are presented in Chapter 9.3.6.

scholarly journals MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

2017 ◽  
Vol 177 (5) ◽  
pp. R249-R259 ◽  
Author(s):  
Albrecht Röpke ◽  
Frank Tüttelmann
Keyword(s):  
Male Infertility ◽  
X Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Genetic Defect ◽  
Point Mutations ◽  
Disorders Of Sex Development ◽  
Infertile Male ◽  
Severe Oligozoospermia ◽  
Chromosomal Genes

Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno’s law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno’s law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis. Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the male-associated Y chromosome, may actually play an essential role in male infertility and sperm production. This is supported by the recent description of a significantly increased copy number variation (CNV) burden on both sex chromosomes in infertile men and point mutations in X-chromosomal genes responsible for male infertility. Thus, the X chromosome seems to be frequently affected in infertile male patients. Four principal X-chromosomal aberrations have been identified so far: (1) aneuploidy of the X chromosome as found in Klinefelter syndrome (47,XXY or mosaicism for additional X chromosomes). (2) Translocations involving the X chromosome, e.g. nonsyndromic 46,XX testicular disorders of sex development (XX-male syndrome) or X-autosome translocations. (3) CNVs affecting the X chromosome. (4) Point mutations disrupting X-chromosomal genes. All these are reviewed herein and assessed concerning their importance for the clinical routine diagnostic workup of the infertile male as well as their potential to shape research on spermatogenic failure in the next years.

P–067 Utility of evaluating semen samples from adolescents with Klinefelter Syndrome for cryopreservation: A multi-institution evaluation

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
K Chu ◽  
N Punjani ◽  
D Nassau ◽  
J Kashanian ◽  
R Ramasamy
Keyword(s):  
Retrospective Study ◽  
Male Infertility ◽  
Sample Size ◽  
Patient Population ◽  
Klinefelter Syndrome ◽  
Semen Analysis ◽  
World Health ◽  
Total Testosterone ◽  
Obstructive Azoospermia ◽  
Future Fertility

Abstract Study question Should physicians continue to evaluate semen analysis from adolescents with Klinefelter Syndrome for fertility preservation? Summary answer In the largest multi-institutional retrospective database to-date for this patient population, no sperm was found in ejaculate for cryopreservation amongst adolescent males with Klinefelter Syndrome. What is known already Klinefelter Syndrome is the most common genetic condition leading to male infertility and non-obstructive azoospermia. The condition causes decreased testicular growth, leading to lower production of testosterone and resulting deficiencies in secondary sexual characteristics. While testosterone therapy may be required for hypogonadism, there may be impact on future fertility potential. Current practice is to have KS adolescent patients provide semen analyses to identify potential sperm for cryopreservation. While the incidence is low, current epidemiological studies have been with limited sample size. Study design, size, duration This was a retrospective study of all adolescent Klinefelter Syndrome patients seen at the male infertility clinics of two large academic institutions between the years of 2015 to 2020. Adolescence was defined as the ages of 10 – 19 years old, as per the World Health Organization. Participants/materials, setting, methods A total of 116 patients were identified for the retrospective study database. Demographic information including weight, height, comorbidities, concurrent medications were collected. Hormone levels such as FSH, LH, testosterone, and estrogen were included for 77 patients. Additionally, semen analyses were available for 49 patients. Main results and the role of chance: Of the 49 patients with semen analyses, only 3 patients had rare sperm in ejaculate not sufficient for cryopreservation while the remaining had azoospermia. The average ejaculate volume of the provided semen samples was 0.9 cc. The average serum total testosterone level of adolescent Klinefelter Syndrome patients was 236 ng/dL. As expected, gonadotropin levels were found to be elevated (mean: 18.47 IU/L for FSH and 9.12 IU/L for LH). Limitations, reasons for caution The main limitation for this study was the sample size. Wider implications of the findings: The findings from the largest retrospective study of this patient population imply a need to revisit counseling regarding the need for semen analyses in adolescent Klinefelter Syndrome patients. Trial registration number Not applicable

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