Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region / 亚洲男科学杂志(英文版)

Spermatogenesis is regulated by several Y chromosome-specific genes located in a specific region of the long arm of the Y chromosome, the azoospermia factor region (AZF). AZF microdeletions are the main structural chromosomal abnormalities that cause male infertility. Assisted reproductive technology (ART) has been used to overcome natural fertilization barriers, allowing infertile couples to have children. However, these techniques increase the risk of vertical transmission of genetic defects. Despite widespread awareness of AZF microdeletions, the occurrence of de novo deletions and overexpression, as well as the expansion of AZF microdeletion vertical transmission, remains unknown. This review summarizes the mechanism of AZF microdeletion and the function of the candidate genes in the AZF region and their corresponding clinical phenotypes. Moreover, vertical transmission cases of AZF microdeletions, the impact of vertical inheritance on male fertility, and the prospective direction of research in this field are also outlined.

Expression of CLAUDIN-11 in the testicular tissue of the patient with non-obstructive azoospermia and its clinical significance / 中华男科学杂志

<p><b>Objective</b>To study the expression of CLAUDIN-11 in the testis tissue of non-obstructive azoospermia (NOA) patients with different severities and investigate its clinical significance.</p><p><b>METHODS</b>Sixty-two NOA patients were divided into a hypospermatogenesis (HS) group (n = 30) and a Sertoli cell only syndrome (SCO) group (n =32). The expression of CLAUDIN-11 in the testicular tissue of the patients was detected by immunohistochemistry, that of CLAUDIN-11 mRNA determined by real-time fluorescence quantitative polymerase chain reaction (RT-qPCR), and the levels of serum reproductive hormones measured by chemiluminescent immunoassay.</p><p><b>RESULTS</b>Immunohistochemistry showed that the expression of CLAUDIN-11 was mainly in the cytoplasm of the Sertoli cells around the seminiferous tubule wall in the HS group, but diffusely distributed in the membrane of the Sertoli cells in the SCO group. RT-qPCR revealed a significantly lower expression of CLAUDIN-11 mRNA in the HS than in the SCO group (0.008 ± 0.001 vs 0.013 ± 0.002, t = 10.616, P<0.01). The level of serum luteotropic hormone (LH) was also markedly lower in the HS than in the SCO group (［3.62 ± 1.34］ vs ［4.96 ± 3.10］ IU/L, P<0.05) and so was that of follicle-stimulating hormone (FSH) (［5.36 ± 2.80］ vs ［10.65 ± 9.18］ IU/L, P<0.05).</p><p><b>CONCLUSIONS</b>The up-regulated expression of CLAUDIN-11 in Sertoli cells may play an important role in the development and progression of spermatogenic dysfunction in NOA patients.</p>

Impact of infertility-related psychological stress on the quality of life of azoospermia patients / 中华男科学杂志

<p><b>Objective</b>To investigate the impact of infertility-related psychological stress (IRPS) on the quality of life (QOL) of azoospermia patients and the correlation between IRPS and QOL.</p><p><b>METHODS</b>Using the Fertility Problem Inventory and Fertility-Related QOL (FertiQOL) questionnaire, we carried out a cross-sectional study among 503 azoospermia patients treated in our center from January to July 2017, all subjected to testicular biopsy for identification of the causes. We analyzed the IRPS and QOL of the patients and explored their correlation.</p><p><b>RESULTS</b>The total score of the azoospermia patients for IRPS was 153.60 ± 27.21 and that for QOL was 64.22 ± 14.68. Multivariate linear regression analysis showed that the main factors influencing the patients' QOL included IRPS ( β = －0.298, P< 0.05), education ( β = －0.093, P< 0.05), and age ( β = 0.099, P< 0.05). Pearson correlation analysis revealed a negative correlation of the total QOL score with all the factors for IRPS (P <0.01).</p><p><b>CONCLUSIONS</b>IRPS is an important factor affecting azoospermia patients' QOL, the higher the IRPS, the worse the QOL. Therefore, sufficient attention and effective intervention measures are needed for the improvement of their QOL.</p>

Novel method of histopathological analysis after testicular sperm extraction in patients with nonobstructive and obstructive azoospermia / 대한생식의학회지

OBJECTIVE: To assess whether the “testicular pool” could be used for histological analysis and whether it gave more accurate information than the standard testicular biopsy. METHODS: Between January 2017 and March 2018, this single-center prospective study included 60 azoospermic men undergoing conventional bilateral testicular sperm extraction. Six samples were excised from each testicle and transferred to an embryologist. One additional biopsy was randomly taken from each testis for a histological analysis. After processing, the testicular pool was also sent for a histological analysis, which showed normal spermatogenesis (NS), hypospermatogenesis (HYPO), maturation arrest (MA), Sertoli cell-only syndrome (SCOS), and tubular atrophy (TA). RESULTS: Twenty of the 60 patients (33.3%) had obstructive azoospermia (OA), while the remaining 40 (66.6%) had nonobstructive azoospermia. Their mean age was 40.5 years. All patients with OA had previously undergone unsuccessful testicular fine-needle aspiration. Successful sperm retrieval (SSR) occurred in 93.3% of patients. Histological analysis of the testicular biopsy revealed NS in 12 patients (20%), HYPO and TA in 28 patients (46.6%), MA in eight patients (13.3%), and SCOS in 12 patients (20%). The testicular pool analysis showed NS in 12 patients (20%), HYPO and TA in 44 patients (73.3%), MA in four patients (6.6%), and SCOS in no patients. In four patients with MA (6.6% of the total sample) and 12 patients with SCOS (20% of the total sample) according to the standard testicular biopsy, the embryologist found SSR with cryopreservation. Overall, in 44 patients (73.3%), the testicular pool analysis confirmed the histological findings of the standard testicular biopsy. In the 16 cases (26.6%) with a discrepancy between the single-biopsy histological findings and SSR, the testicular pool analysis confirmed the embryological data on SSR. CONCLUSION: The testicular pool proved to be easily analyzable, practical, manageable, and more accurate for predicting sperm retrieval than standard testicular biopsy.

Needle Aspiration Biopsy of Seminiferous Tubules (NABST) as a Diagnostic Method in Korea / 전남의대학술지

To evaluate the diagnostic efficacy of needle aspiration biopsy of seminiferous tubules (NABST) and to represent the redistributed diagnostic results corresponding to testicular volumes and follicle-stimulating hormone (FSH) levels. In this retrospective study, we investigated 65 infertile men with either azoospermia or oligoasthenoteratozoospermia. Following NABST, specimens were stained with hematoxylin and eosin and classified into five histological types. With pre-procedure FSH levels and testicular volumes, we evaluated the probabilities of detecting sperms within biopsy specimens. NABST led to the classification of normal spermatogenesis in 31 cases (47.7%), hypospermatogenesis in 23 cases (35.4%), maturation arrest in 4 cases (6.2%), and Sertoli cell only syndrome in 4 cases (6.2%). The success rate of reaching a histological diagnosis using NABST was 95.4% (62 out of 65 cases). Fourteen patients (21.5%) had a testicular volume <15 cc; of these, 8 patients (57.1%) had normal spermatogenesis, 2 patients (14.3%) had hypospermatogenesis, 2 patients (14.3%) had maturation arrest and 2 patients (14.3%) had Sertoli cell-only syndrome (SCO). Twelve patients (18.5%) had an FSH level ≥10 IU; of these, 6 (50%) had normal spermatogenesis, 2 patients (16.7%) had maturation arrest and 4 patients (33.3%) had SCO. Cases with an FSH level <10 IU were positively associated with a probability of detecting sperm using NABST (p<0.001). NABST is a reliable tool for the histological diagnosis of azoospermic and oligoasthenoteratozoospermic patients. The diagnostic success rate was high and associated with pathological accuracy. NABST is a convenient procedure with few complications.

Needle Aspiration Biopsy of Seminiferous Tubules (NABST) as a Diagnostic Method in Korea / 전남의대학술지

To evaluate the diagnostic efficacy of needle aspiration biopsy of seminiferous tubules (NABST) and to represent the redistributed diagnostic results corresponding to testicular volumes and follicle-stimulating hormone (FSH) levels. In this retrospective study, we investigated 65 infertile men with either azoospermia or oligoasthenoteratozoospermia. Following NABST, specimens were stained with hematoxylin and eosin and classified into five histological types. With pre-procedure FSH levels and testicular volumes, we evaluated the probabilities of detecting sperms within biopsy specimens. NABST led to the classification of normal spermatogenesis in 31 cases (47.7%), hypospermatogenesis in 23 cases (35.4%), maturation arrest in 4 cases (6.2%), and Sertoli cell only syndrome in 4 cases (6.2%). The success rate of reaching a histological diagnosis using NABST was 95.4% (62 out of 65 cases). Fourteen patients (21.5%) had a testicular volume <15 cc; of these, 8 patients (57.1%) had normal spermatogenesis, 2 patients (14.3%) had hypospermatogenesis, 2 patients (14.3%) had maturation arrest and 2 patients (14.3%) had Sertoli cell-only syndrome (SCO). Twelve patients (18.5%) had an FSH level ≥10 IU; of these, 6 (50%) had normal spermatogenesis, 2 patients (16.7%) had maturation arrest and 4 patients (33.3%) had SCO. Cases with an FSH level <10 IU were positively associated with a probability of detecting sperm using NABST (p<0.001). NABST is a reliable tool for the histological diagnosis of azoospermic and oligoasthenoteratozoospermic patients. The diagnostic success rate was high and associated with pathological accuracy. NABST is a convenient procedure with few complications.

Factors influencing sperm retrieval following testicular sperm extraction in nonobstructive azoospermia patients / 대한생식의학회지

OBJECTIVE: Azoospermia owing to testicular disorders is the most severe manifestation of male infertility. The main concern for patients with nonobstructive azoospermia (NOA) is the probability of successful sperm retrieval following testicular sperm extraction (TESE). Therefore, the goal of this study was to determine predictive factors correlated with sperm retrieval. METHODS: We assessed the testicular histopathological patterns, the choice of TESE surgical procedure, hormone levels, and chromosomal abnormalities in patients with NOA (n=170). The histopathology specimens were analyzed based on the histopathological patterns of hypospermatogenesis, maturation arrest, and Sertoli cell-only syndrome. RESULTS: The mean rate of sperm retrieval was 48.8%. The rate of sperm retrieval was significantly higher in the hypospermatogenesis group than in the other groups (p<0.001). There was a positive correlation between micro-TESE (vs. conventional TESE) and the sperm retrieval rate (odds ratio, 8.077; p<0.01). A logistic regression model demonstrated that high levels of follicle-stimulating hormone (FSH) and small testicular volume were significantly associated with lower chances of successful sperm retrieval. CONCLUSION: Some parameters, including testicular histopathology patterns, FSH levels, testicular volume, and method of TESE surgery, may be able to predict the chances of obtaining spermatozoa in patients with NOA. However, despite the efficiency of some predictive models, the hope of retrieving any functioning spermatozoa may be sufficient to disregard predictive factors of the success of intracytoplasmic sperm injection in these patients.

5'-flanking regulatory sequence methylation of the Boule gene in the testis tissue of infertile men with Sertoli cell-only syndrome / 中华男科学杂志

<p><b>Objective</b>To investigate the 5'-flanking regulatory sequence methylation status of the Boule gene in the testis tissue of infertile men with Sertoli cell-only syndrome (SCOS).</p><p><b>METHODS</b>We collected biopsy samples of the testis tissue from 12 men with obstructive azoospermia (the control group) and 15 cases of SCOS, all without varicocele, cryptorchidism, or infectious disease. We extracted genomic DNA from the testis tissue of the SCOS patients, analyzed the characteristics of the 5'-flanking regulatory sequence of the Boule gene using the bioinformatics method, and detected the methylation status of the Boule gene by sodium bisulfite sequencing.</p><p><b>RESULTS</b>A CpG island was observed in the 5'-flanking regulation region of the Boule gene. The methylation level of the Boule gene was remarkably higher in the SCOS group than in the obstructive azoospermia controls (61.4% vs 21.7%, P<0.01), with significant differences in the methylation levels of 14 CpG sites, namely, －58 bp, －50 bp, －48 bp, －38 bp, －28 bp, －24 bp, －20 bp, －15 bp, －1 bp, +5 bp, +8 bp, +15 bp, +29 bp, and +58 bp.</p><p><b>CONCLUSIONS</b>The methylation level of the Boule gene is significantly higher in the SCOS patients than in the obstructive azoospermia males, which suggests that the changes in Boule methylation may be associated with spermatogenic dysfunction.</p>

Testicular Biopsy Histopathology as an Indicator of Successful Restoration of Spermatogenesis after Varicocelectomy in Non-obstructive Azoospermia

PURPOSE: We aimed to evaluate the efficacy of using testicular biopsy histopathology as an indicator of the success of loupe-assisted subinguinal varicocelectomy in non-obstructive azoospermia (NOA) patients. MATERIALS AND METHODS: In a 2-year period, a prospective study was carried at Minoufiya University Hospital on 20 NOA patients with clinical bilateral varicoceles. These patients underwent loupe-assisted subinguinal varicocelectomy with simultaneous testicular biopsy. All patients were evaluated by determining their hormonal profile and performing semen analyses and scrotal Doppler and transrectal ultrasonography. Two semen analyses showing azoospermia were performed before the surgery and two semen analyses were received at 3 and 6 months post-operatively for follow-up. RESULTS: The mean age was 29.9+/-6.7 years, and the mean follow-up duration was 17.3+/-8.3 months. We noted the restoration of spermatogenesis in six men (30% of all patients). Testicular biopsy results were as follows: hypospermatogenesis in 7 patients, maturation arrest in 3, and Sertoli cell-only syndrome in 10. The improvement in the sperm counts of these patients ranged from 3 million to 15 million/mL. Sperms were recovered in the hypospermatogenesis (6 patients, 85.5%) patients only, but other patients with testicular biopsy results of Sertoli cell-only or maturation arrest did not show any improvement in their semen parameters. CONCLUSIONS: Testicular biopsy results showed that hypospermatogenesis patients have a better chance of improvement in their semen analysis after varicocelectomy in contrast to NOA patients with Sertoli cell-only syndrome or maturation arrest.

Establishing a mouse model of Sertoli-cell-only syndrome by administration of busulfan / 中华男科学杂志

<p><b>OBJECTIVE</b>To establish a stable and reliable model of Sertoli-cell-only syndrome in mice.</p><p><b>METHODS</b>We randomly divided 60 NIH mice into two groups of equal number to receive intraperitoneal injection of busulfan (30 mg/kg) and 30 or 60 minutes of testis cooling. At 2, 4 and 8 weeks after treatment, we recorded the survival rate of the mice, weight of the testis and Johnsen scores, and conducted quantitative analysis on the degrees of spermatogenetic failure.</p><p><b>RESULTS</b>There were no significant differences in the baseline body weight and survival rate between the intervention and control groups (P > 0.05). At 4 and 8 weeks, the testis weight and Johnsen score were significantly lower in the intervention group than in the control ([0.04 +/- 0.01] g and [0.05 +/- 0.01] g vs [0.09 +/- 0.03] g and [0.11 +/- 0.02] g, P < 0.05; 3.86 +/- 0.50 and 2.70 +/- 0.67 vs 9.60 +/- 0.25 and 9.76 +/- 0.43, P < 0.01). At 2, 4 and 8 weeks, the testis weights were (0.07 +/- 0.02) g, (0.06 +/- 0.01) g and (0.09 +/- 0.01) g, respectively, in the 30-min cooling group and (0.05 +/- 0.01) g, (0.04 +/- 0.02) g and (0.04 +/- 0.02) g in the 60-min cooling group, significantly lower than in the control side at the same time points ([0.11 +/- 0.01] g, [0.11 +/- 0.01] g and [0.12 +/- 0.00] g) (P < 0.05), and the Johnsen scores were 4.70 +/- 0.67, 2.70 +/- 0.84 and 6.10 +/- 1.14 in the 30-min and 1.67 +/- 0.58, 1.20 +/- 0.45 and 1.00 +/- 0.00 in the 60-min cooling group, remarkably lower than in the control side (9.60 +/- 3.23, 9.60 +/- 0.55 and 9.70 +/- 0.45) (P < 0.01). Histopathological examination of the cooled testes revealed considerable atrophy of seminal tubules, necrosis of seminiferous epithelia and peritubular fibrosis.</p><p><b>CONCLUSION</b>Administration of busulfan has no obvious influence on the survival of mice, and is a reliable method for constructing a mouse model of Sertoli-cell-only syndrome.</p>

Histopathological patterns of testicular biopsy in male infertility: a retrospective study from a tertiary care center in the western part of Saudi Arabia

To identify and categorize various pathological changes seen in testicular biopsies of males with infertility and to compare the results with data from other local and international studies. All testicular biopsies from males with infertility received by the Pathology Department of King AbdulAziz University Hospital, Jeddah, in the period from January 2004 until May 2010 are reviewed and histopathologically classified into seven categories as follows: Normal spermatogenesis, hypospermatogenesis, germ cell maturation arrest [GCMA], Sertoli cell only syndrome, seminiferous tubule hyalinization, mixed and discordant patterns. One hundred testicular biopsies were identified in the computerized records of the Department of Pathology of King AbdulAziz University Hospital in the studied period. The age ranged from 22 to 70 years with a mean age of 24.5 years. The histopathological patterns were as follows: 14 [14%] cases were reported as normal spermatogenesis;[29, 29%] cases as hypospermatogesis; and 12 [12%] cases were reported as GCMA, mostly at the level of primary spermatocytes. The Sertoli cell only syndrome and the seminiferous tubule hyalinization categories were each reported in 16 cases [16%]. Nine cases [9%] showed a mixed pattern. Discordant pattern was seen in 5 [5%] cases. Our study showed that hypospermatogenesis is the commonest pattern in testicular biopsies taken from males with infertility in our region. This study supports the recommendation of bilateral testicular biopsies when investigating male infertility

Histologic pictures of male infertility in Yemeni patients

To define subgroups of male infertility and frequency of focal normal spermatogenesis in multiple testicular biopsies of non-obstructive asoozpermia in Yemeni patients. A descriptive record based study of 485 cases of male infertility was carried out in the in vitro fertilization [IVF] center in Sana'a, Yemen during the period from 1st August 2000 to 30th December 2007. During histological analysis the sample was evaluated regarding the size of seminiferous tubules, the thickness of tubules, the relative number and types of germ cells, the degree of fibrosis, and presence of focal normal spermatogenesis. The results were commonly classified according to the used clinical practical classification. Out of a total of 485 testicular biopsies, 164 [33.8%] cases showed germ cell aplasia. The fibrosis represented the lowest frequency being 93 [19.2%] cases. Obstructive asoozpermia was present in 99 [20.4%] cases, and maturation arrest in 116 [23.9%] cases. Focal normal spermatogenesis was found in 106 [27.5%] out of 385 cases of non-obstructive asoozpermia with higher frequency in fibrosis cases [36.6%]. We have shown in this study the different histopathologic patterns in our local patients, which correlate with some studies and shows discrepancies with others. Therefore, these findings are informative for concerned IVF centers to help the patients who are suffering from primary infertility

Efficacy of In Vitro Germ Cell Culture in Nonobstructive Azoospermic Patients with Sertoli Cell Only Syndrome

PURPOSE: We determined the usefulness of in vitro germ cell culture in nonobstructive azoospermic patients diagnosed with Sertoli cell only syndrome, no sperm in testicular sperm extraction. MATERIALS AND METHODS: This study included 44 patients (45 testicular tissues) with nonobstructive azoospermia who were diagnosed with Sertoli cell only syndrome and were found to have no sperm in testicular sperm extraction between January 2006 and July 2008. Among the 45 testicular tissues, 22 tissues were processed for culture. In the in vitro cultures, the testicular tissues were dissociated and plated on gelatin-coated dishes. Patients were divided into 2 groups according to culture success: group I, culture positive (+; n=10); and group II, culture negative (-; n=12). RESULTS: The mean patient ages were 31.73 and 31.68 years for groups I and II, respectively. The mean testicular sizes were 10.19 and 10.42 cc, respectively; the semen volumes were 2.86 and 3.04 cc, respectively; and the mean FSH, LH, and testosterone levels were 18.86 mIU/ml, 5.99 mIU/ml, and 4.46 ng/ml vs. 21.02 mIU/ml, 6.29 mIU/ml, and 4.32 ng/ml for groups I and II, respectively, with no significant differences between the groups (p>0.05). The culture rate of nonobstructive azoospermic patients diagnosed with Sertoli cell only syndrome was 45.5% (10/22). Round spermatid injection was done in 2 patients with consent of the patients, but implantation failed. Among the 45 tissues, germ cells were found in 8 tissues after pathologic reexamination. CONCLUSIONS: The in vitro culture of germ cells would be useful in the advanced treatment of nonobstructive azoospermic patients.

Testicular biopsies--histomorphologic patterns in male infertility.

The objective of the present study is to observe the spectrum of histopathological changes in the testicular biopsies of infertile men and to assess if a bilateral biopsy is required to reveal the pathology of infertility in every case or a unilateral biopsy would suffice. Thirty testicular biopsies (21 bilateral and 9 unilateral) were studied from 30 infertile men. The patterns of testicular damage seen in the present study were maturation arrest followed by hypospermatogenesis, Sertoli-cell only syndrome, tubular hyalinisation and one case was associated with normal histology. Comparing the histopathological findings in bilateral biopsies, it was seen that a unilateral biopsy would suffice to reveal the pathology in most instances and a bilateral biopsy is needed only when there is appreciable difference in the size of the testes.

Usefulness of testicular fine needle aspiration cytology in cases of infertility.

Testicular fine needle aspiration cytology (FNAC) is an important investigation in management of male infertility, especially to differentiate between obstructive and non obstructive causes of azoospermia. It is less invasive and associated with no or minimal complications. Nowadays when assisted fertilization techniques are being practiced, fibrosis after biopsy may further hamper in sperm extraction for intra cytoplasmic sperm injection (ICSI). Present study describes a detailed analysis of aspiration cytology in 546 cases and also compared 48 cases of testicular biopsies with cytology. The cytological diagnoses correlated well with histological diagnoses and helped in management of infertility. FNAC can help in management of surgical and medical causes of infertility and can save unnecessary expensive investigations in cases of sertoli cell only syndrome and atrophic patterns. FNAC in combination with semen analysis and serum follicle stimulating hormone levels are of great help in management of male infertility.

Role of testicular biopsy in the evaluation of azoospermic men

A total of 67 infertile men with azoospermia were studied over 5 years period [February 1997-March 2002]. Their mean age was 33 years and mean duration of infertility was 6 years. They underwent bilateral testicular biopsy under general anaesthesia and the specimens were categorizwd according to histopathological patterns. These included normal spermatgenesis 12 [17.9%]; hypospermatogenesis 4 [5.9%]; spermatogenic arrest 39 [58.2%]; sertoli cell only 7 [10.4%]; and complete tubular hyalinization 5 [7.4%]. This study highlights the role of testicular biopsy as a reliable and useful technique for the investigation of patients with azoospermia

The Influences of Vascular Endothlelial Growth Factor and Endothelin-1 on Speramtogenesis in Testis / 대한불임학회지

OBJECTIVE: The effects on spermatogenesis by expression of vascular endothelial growth factor (VEGF) and endothelin-1 (ET-1) were investigated. MATERIALS AND METHODS: Testicular specimens were obtained from 40 infertile males due to primary testicular failure and from 10 fertile males with other urologic problems. The specimens of infertile males were devided into 4 groups according to histologic findings; Sertoli cell only syndrome (A), maturation arrest (B), hypospermatogenesis (C) and sloughing and disorganization (D). VEGF and ET-1 expression were detected with immunohistochemical stain. RESULTS: VEGF expression on Leydig cell was detected in all cases. But, VEGF expression rates on germ cell were significantly higher in infertile group B, C, D compared to that of the control group (p0.05). In germ cell of infertile group, LH, FSH and prolactin were significantly decreased, and estradiol is increased in positive stain group on ET-1 immunohistochemical stain (p0.05). CONCLUSIONS: Abnormal spermatogenesis would be reflected in VEGF expression in germ cell.

Relationship between Microdeletions on the Y Chromosome and Defect of Spermatogenesis / 대한불임학회지

OBJECTIVES: To estimate the frequency of Y chromosome microdeletions in the Korean population of infertile men and to evaluate the relationship between microdeletion on the Y chromosome and clinical phenotypes of infertile men with idiopathic azoospermia and oligozoospermia. MATERIALS AND METHODS: Genomic DNA was extracted from blood samples collected from 330 infertile men attending the Infertility Clinic at Samsung Cheil Hospital, Korea. Six sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified by polymerase chain reactions (PCRs). RESULTS: Microdeletions on Y chromosome were detected in 35 (10.6%) of the 330 infertile men. Most of the microdeletions (91.4%) involved AZFb or AZFc. The high incidence of microdeletions were found in AZFc region (57.1%), but the low in AZFa (8.6%) and AZFb (5.7%). Larger microdeletions involving two or three AZF regions were detected in 28.6% of cases. All patients (6 patients) with deletion of AZFa region showed no germ cell phenotypes, Sertoli cell only syndrome or Leydig cell hyperplasia in histopathologic examinations. CONCLUSION: Microdeletions on the Y chromosome, especially, at AZFc/DAZ regions may be the major cause of azoospermia and severe oligozoospermia. We suggest that idiopathic infertile men have genetic counselling and microdeletion analysis on the Y chromosome before IVF-ET and ART program.

Relationship between Microdeletions on the Y Chromosome and Defect of Spermatogenesis / 대한불임학회지

OBJECTIVES: To estimate the frequency of Y chromosome microdeletions in the Korean population of infertile men and to evaluate the relationship between microdeletion on the Y chromosome and clinical phenotypes of infertile men with idiopathic azoospermia and oligozoospermia. MATERIALS AND METHODS: Genomic DNA was extracted from blood samples collected from 330 infertile men attending the Infertility Clinic at Samsung Cheil Hospital, Korea. Six sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified by polymerase chain reactions (PCRs). RESULTS: Microdeletions on Y chromosome were detected in 35 (10.6%) of the 330 infertile men. Most of the microdeletions (91.4%) involved AZFb or AZFc. The high incidence of microdeletions were found in AZFc region (57.1%), but the low in AZFa (8.6%) and AZFb (5.7%). Larger microdeletions involving two or three AZF regions were detected in 28.6% of cases. All patients (6 patients) with deletion of AZFa region showed no germ cell phenotypes, Sertoli cell only syndrome or Leydig cell hyperplasia in histopathologic examinations. CONCLUSION: Microdeletions on the Y chromosome, especially, at AZFc/DAZ regions may be the major cause of azoospermia and severe oligozoospermia. We suggest that idiopathic infertile men have genetic counselling and microdeletion analysis on the Y chromosome before IVF-ET and ART program.

Relation between histology of testicular biopsy and level of sex hormones in infertile men with non-obstructive azoospermia

Testicular retrieval of spermatozoa which is known as testicular extraction [TESE] with subsequent microinjection of spermatozoon into oocyte intracytoplasmic sperm injection [ICSI], is an effective treatment program for cases with azoospermia. The main objective of this prospective study was to evaluate the histology of testicular biopsy and it,s correlation with sex hormones of men with non-obstructive azoospermia. A total of 50 infertile men with above condition with mean age of 32.6 years were involved in this study. The level of FSH, LH and testosterone with the TESE results and the size of testicles were recorded in full. In the absence of sperm in TESE samples, the specimens were sent to pathology Laboratory for further evaluation. The results show that spermatozoa were present in TESE samples of 12 cases, while 15 and 7 cases show sertoli cell only syndrome and maturation arrest, respectively. A total of 46%[23 cases] were presented with small testicular size, and 16 of them had high level of FSH. Only 4 individuals with normal size of testis had high elevation of FSH, which was directly related, with the level of LH. However, the abnormal concentration of FSH LH was indirectly correlated with abnormal levels of testosterone. In addition, an indirect correlation between abnormal FSH with type of testicular pathology was noticed. The results indicate that a successful TESE could be done regardless of the hormonal condition of FSH LH, Therefore, it is important to note that TESE is unnecessary in cases with atrophied testis with extremely high concentration of FSH. This certainly reduces not only the surgical cost, but also may reduce the psycho-stress upon the infertile couples