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 Cytogenetic findings in Serbian patients with Klinefelter syndrome

Genetika ◽  
2020 ◽  
Vol 52 (1) ◽  
pp. 97-105
Author(s):  
Vesna Djordjevic ◽  
Zvezdana Jemuovic ◽  
Sandra Pekic ◽  
Marina Djurovic
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Standard Procedure ◽  
Fish Analysis ◽  
Alpha Satellite Dna ◽  
Y Chromosomes ◽  
Standard Karyotype ◽  
Blood Specimens ◽  
Mosaic Karyotype

Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans (1/600 newborn males). The most widespread karyotype in affected patients is 47,XXY, but various others have been described. The aim of this study was to examine the karyotypes of a group of patients suspected of having Klinefelter's syndrome. Between January 1993 and April 2018 104 adult KS patients were evaluated. Cytogenetic analysis was carried out on metaphases obtained from phytohemagglutinin-stimulated peripheral lymphocytes using a standard procedure. Fluorescence in situ hybridization (FISH) analysis was performed on peripheral blood specimens. Vysis CEP X/Y- alpha satellite DNA probes were used to detect X and Y chromosomes. We identified KS presenting the ?standard? or 47,XXY karyotype in eighty three (80%) patients, while five (5%) KS patients showed the mosaic karyotype 47,XXY/46,XY and three (3%) patients had the mosaic karyotype 47,XXY/46,XX. In six (6%) cases KS patients with the ?standard? karyotype also had autosomal chromosomal abnormalities, while numerical sex chromosome abnormalities, with karyotypes 48,XXYY occurred in two (2%) subjects, 47,XYY in three (3%) and 47,XYY/46,XY in two (2%) individuals. Thus, most of our KS patients had the 'standard', 47,XXY karyotype, but some men formed a group of patients with a diversity of other karyotypes. These disparate chromosomal variants may have different physical and mental implications for the general symptomatology of KS. Therefore, it is important to determine the nature of the karyotype of every male with clinical characteristics of KS in very early childhood in order to initiate an adequate, personalized, medical approach.

scholarly journals Violent behaviors and Klinefelter syndrome: Two forensic cases from the past to the future / Comportamenti violenti e sindrome di Klinefelter: Due casi forensi dal passato al futuro / Comportamientos violentos y síndrome de Klinefelter: Dos casos forenses del pasado al futuro

2019 ◽  
Author(s):  
Isabella Aquila ◽  
Matteo Antonio Sacco ◽  
Carmen Scalise ◽  
Salvatore Savastano ◽  
Irene Iezzi ◽  
...  
Keyword(s):  
Language Learning ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Psychosocial Problems ◽  
Sexual Disorders ◽  
Post Mortem ◽  
Personal Story ◽  
Sindrome Di Klinefelter ◽  
Criminal Personality

Klinefelter Syndrome (KS) (XXY) is the most common sex-chromosome aberration among men. The cognitive phenotype includes language learning problems, mental retardation, and psychiatric disorders. Patients can show criminal personality and psychosocial problems. The most common offences reported are sexual abuse, arson, burglary, homicide, drug-related crimes. KS very often goes under-diagnosed. The aim of our study is to verify the hypothesis of correlation between chromosomal abnormalities and criminal behaviors through the analysis of a forensic case of uxoricide/suicide. We report the case of an old man, found dead in his cottage with a gun in the right hand. Judicial inspection demonstrated suicidal single gunshot injuries. Data analysis highlighted a personal story of uxoricide. Autopsy investigation showed the typical KS phenotype. The post-mortem clinical diagnosis was confirmed through the genetic analysis of the karyotype. The retrospective analysis of literature with this case showed a possible correlation between KS and psychiatric traits, with criminal personality and sexual disorders. RiassuntoLa Sindrome di Klinefelter (KS) (XXY) è l'aberrazione cromosomica più comune tra gli uomini. Il fenotipo cognitivo include problemi di apprendimento linguistico, ritardo mentale e disturbi psichiatrici. I pazienti possono mostrare personalità criminale e problemi psicosociali. I reati più comuni riportati sono abusi sessuali, incendio doloso, furto con scasso, omicidio, reati connessi alla droga. KS molto spesso va sotto-diagnosticato. Lo scopo del nostro studio è verificare l'ipotesi di correlazione tra anomalie cromosomiche e comportamenti criminali attraverso l'analisi di un caso forense di uxoricide / suicidio. Riportiamo il caso di un vecchio, trovato morto nella sua casetta con una pistola nella mano destra. Ispezioni giudiziarie hanno dimostrato lesioni suicide con singolo colpo d'arma da fuoco. L'analisi dei dati ha evidenziato una storia personale di uxoricide. L'indagine dell'autopsia ha mostrato il tipico fenotipo KS. La diagnosi clinica post-mortem è stata confermata attraverso l'analisi genetica del cariotipo. L'analisi retrospettiva della letteratura con questo caso ha mostrato una possibile correlazione tra KS e tratti psichiatrici, con personalità criminale e disturbi sessuali. ResumenEl síndrome de Klinefelter (KS) (XXY) es la aberración de cromosomas sexuales más común entre los hombres. El fenotipo cognitivo incluye problemas de aprendizaje del lenguaje, retraso mental y trastornos psiquiátricos. Los pacientes pueden mostrar personalidad criminal y problemas psicosociales. Los delitos más comunes reportados son abuso sexual, incendio premeditado, robo, homicidio, delitos relacionados con drogas. KS muy a menudo va bajo diagnosticado. El objetivo de nuestro estudio es verificar la hipótesis de correlación entre las anomalías cromosómicas y las conductas delictivas mediante el análisis de un caso forense de uxoricida / suicidio. Informamos el caso de un anciano, encontrado muerto en su casa con un arma en la mano derecha. La inspección judicial demostró lesiones suicidas con un solo disparo. El análisis de datos resaltó una historia personal de uxoricidio. La investigación autopsia mostró el fenotipo típico de KS. El diagnóstico clínico post mortem se confirmó mediante el análisis genético del cariotipo. El análisis retrospectivo de la literatura con este caso mostró una posible correlación entre el SK y los rasgos psiquiátricos, con personalidad criminal y trastornos sexuales.

scholarly journals Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

2021 ◽  
Vol 45 (1) ◽  
Author(s):  
Tajudeen O. Yahaya ◽  
Esther O. Oladele ◽  
Daniel Anyebe ◽  
Chidiebere Obi ◽  
M. D. A. Bunza ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Ring Chromosome ◽  
Chemical Exposure ◽  
Gene Expressions ◽  
Triple X Syndrome ◽  
Increased Risk ◽  
History Of

Abstract Background Much interest has not been placed on the role of chromosomal abnormalities in the pathogenesis and rising prevalence of infertility in recent times. This review was conducted to renew public interest on the chromosomal basis of infertility, testing, and management. Main text Meiotic and post-zygotic mitotic errors may cause infertility-predisposing chromosomal abnormalities, including Klinefelter syndrome, Jacob syndrome, Triple X syndrome, Turner syndrome, and Down syndrome. Chromosomal abnormalities such as deletion, translocation, duplication, inversion, and ring chromosome may also predispose to infertility. Notable features of male chromosomal infertility include spermatogenic failure, characterized by azoospermia, oligospermia, and gonadal dysgenesis, while females include premature ovarian insufficiency, amenorrhea, spontaneous abortion, and gonadal dysgenesis. The risk of these abnormalities is influenced by maternal age and environmental factors such as chemical exposure, smoking, and alcohol consumption. Most chromosomal abnormalities occur spontaneously and are not treatable. However, early prenatal screening and diagnostic tests can lessen the effects of the conditions. There is also a growing belief that certain diets and drugs capable of changing gene expressions can be formulated to neutralize the effects of chromosomal abnormalities. Conclusion Meiotic and mitotic errors during gametogenesis and fetal development, respectively, can cause chromosomal abnormalities, which predispose to infertility. Couples who are at increased risk, particularly those with a family history of infertility and women at an advanced age (≥ 35 years), should seek medical advice before getting pregnant.

Pre-test anxiety levels and postoperative pain in non-obstructive azoospermic patients: Is klinefelter syndrome a predisposing factor?

2021 ◽  
pp. 039156032110252
Author(s):  
Metin Yığman ◽  
Fatih Yığman ◽  
Semih Tangal ◽  
Ahmet Hakan Haliloğlu ◽  
Gamze Sinem Çağlar
Keyword(s):  
Postoperative Pain ◽  
Pain Perception ◽  
Klinefelter Syndrome ◽  
Normal Karyotype ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Predisposing Factor ◽  
Significant Difference ◽  
Reproductive Techniques ◽  
Male Patients

Introduction: Increased depression and anxiety incidence in infertile individuals treated with assisted reproductive techniques have been shown in studies. Postoperative pain perception after testicular sperm extraction (TESE) is thought to be related to preoperative anxiety in non-obstructive azoospermia (NOA). Materials and methods: Twenty patients with Klinefelter syndrome (KS) and twenty male patients with normal karyotype NOA planned for TESE under local anaesthesia due to azoospermia were included in the study. Spielberger State-Trait Anxiety Inventory (STAI-T and STAI-S) inventory was given to all patients 1 h before surgery. Postoperative pain evaluation was performed at 0, 30, 60 and 120 min with visual analogue scale (VAS). STAI-T inventory was given to the patients again 2 h after the procedure. Results: Preoperative STAI-S and STAI-T scores and postoperative STAI-T scores of patients in the KS group were higher than those in the NOA group, and there was a significant difference in the statistical analysis between the two groups ( p < 0.001). In the postoperative VAS scores, there was no statistical difference at the 0 and 120th min ( p = 0.56 and p = 0.87, respectively); at the 30, 60 and 90th min there was a statistically significant difference between the two groups, especially in patients in the KS group ( p < 0.05, p < 0.05, p < 0.01, respectively). Conclusion: The contribution of anxiety to pain perception should be kept in mind in azoospermic male patients before TESE, and additional measures should be taken considering that this may be experienced at a higher level in KS patients.

scholarly journals Хромосомні аномалії у чоловіків із різним ступенем порушення сперматогенезу

2013 ◽  
Vol 4 (1) ◽  
pp. 14-22 ◽  
Author(s):  
L. Y. Pylyp ◽  
L. A. Spinenko ◽  
V. D. Zukin ◽  
N. M. Bilko
Keyword(s):  
Assisted Reproductive Technologies ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Sperm Count ◽  
Reproductive Technologies ◽  
Chromosomal Mosaicism ◽  
Male Factor ◽  
Increased Risk ◽  
Cytogenetic Studies

Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6%) patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19), followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9). The frequency of inversions was 0.6% (n = 4). Gonosomal abnormalities included 14 cases of sex chromosome aneuploidy and 2 cases of terminal deletion of Y chromosome. Klinefelter syndrome was detected in 67% of patients with azoospermia. A significant increase in the frequency of numerical chromosomal abnormalities was observed in a group of patients with azoospermia (P < 0.001). No differences were detected in the frequency of structural abnormalities in subgroups of patients. An increase in the frequency of chromosomal abnormalities with the decrease of sperm count was observed. Chromosomal abnormalities were detected with frequency 1.1% in a group of patients with normospermia, 1.9% in a group of patients with asthenozoospermia, 4.3% in patients with asthenoteratozoospermia, 6.5% in patients with oligoasthenozoospermia, 11.6% in patients with oligoasthenoteratozoospermia and 35% in a group of patients with azoospermia. Significant increase of the prevalence of chromosomal abnormalities was detected in subgroups of patients with azoospermia (P < 0.001) and oligozoospermia (P = 0.001) as compared to patients with normozoospermia. These results are considered to be criteria for selection of patients in need of cytogenetic studies before in vitro fertilization cycles because of the highest risk of chromosomal abnormalities detection. 

scholarly journals Polymerase chain reaction-based assays facilitate the breeding and study of mouse models of Klinefelter syndrome

2021 ◽  
Author(s):  
Haixia Zhang ◽  
Wenyan Xu ◽  
Yulin Zhou ◽  
Xiaolu Chen ◽  
Jiayang Jiang ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Mouse Models ◽  
Klinefelter Syndrome ◽  
High Capacity ◽  
Rapid Identification ◽  
Obstructive Azoospermia ◽  
Chain Reaction ◽  
Genetic Abnormalities ◽  
Technical Issues ◽  
Polymerase Chain

AbstractKlinefelter syndrome (KS) is one of the most frequent genetic abnormalities and the leading genetic cause of non-obstructive azoospermia. The breeding of mouse models of KS and their study are essential to advance our knowledge of the pathologic mechanism. Karyotyping and fluorescence in situ hybridization are reliable methods for identifying chromosomal contents. However, technical issues associated with these methods can decrease the efficiency of breeding KS mouse models and limit studies that require rapid identification of target mice. To overcome these limitations, we developed three polymerase chain reaction-based assays to measure the specific genetic information, including the presence or absence of Sry, copy number of Amelx, and Xist RNA transcript levels. Through a combined analysis of the assay results, we can infer the karyotype of target mice. We confirmed the utility of our assays with the successful generation of KS mouse models. Our assays are rapid, inexpensive, high capacity, easy to perform, and require small amounts of sample. Therefore, they facilitate the breeding and study of KS mouse models and help advance our knowledge of the pathologic mechanism underlying KS.

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.

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

scholarly journals Prediction Models for Successful Sperm Retrieval in Patients with Non-Obstructive Azoospermia Undergoing Microdissection Testicular Sperm Extraction: Is There Any Room for Further Studies?

2021 ◽  
Vol 10 (23) ◽  
pp. 5538
Author(s):  
Ettore Caroppo ◽  
Giovanni Maria Colpi
Keyword(s):  
Prediction Accuracy ◽  
Prediction Models ◽  
Noncoding Rnas ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Testicular Sperm ◽  
Sperm Retrieval ◽  
Azfc Deletion ◽  
The Past ◽  
History Of

Several prediction models for successful sperm retrieval (SSR) in patients with azoospermia due to spermatogenic dysfunction (also termed non-obstructive azoospermia—NOA) have been developed and published in the past years, however their resulting prediction accuracy has never been strong enough to translate their results in the clinical practice. This notwithstanding, the number of prediction models being proposed in this field is growing. We have reviewed the available evidence and found that, although patients with complete AZFc deletion or a history of cryptorchidism may have better probability of SSR compared to those with idiopathic NOA, no clinical or laboratory marker is able to determine whether a patient with NOA should or should not undergo microdissection testicular sperm extraction (mTESE) to have his testicular sperm retrieved. Further research is warranted to confirm the utility of evaluating the expression of noncoding RNAs in the seminal plasma, to individuate patients with NOA with higher probability of SSR.

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