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At least 19 recordsLinked to original sources
PubMed2026

Proteomic insights into azoospermia: protein differences in testicular tissue between non-obstructive and obstructive azoospermia patients.

Non-obstructive azoospermia (NOA) and obstructive azoospermia (OA) are the main classifications of severe male infertility, but the molecular mechanism of NOA remains poorly understood. This study aimed to identify potential biomarkers and pathological mechanisms by comparing the proteomic differences in testicular tissues of NOA and OA patients. Through proteomic analysis based on liquid chromatography-tandem mass spectrometry (LC-MS/MS) of testicular samples from 5 NOA patients and 5 OA patients, we identified 5264 proteins, among which 717 differentially expressed proteins (DEPs) were found between the two groups (242 upregulated and 475 downregulated in NOA). Bioinformatics analysis indicated that these DEPs were significantly associated with reproductive development, gametogenesis, and cell structural stability. On the basis of this, six candidate proteins, including dysferlin (DYSF), myoferlin (MYOF), mitsugumin 53 (MG53), cluster of differentiation 63 (CD63), caveolin-3 (CAV3), and calpain-3 (CAPN3), were selected from the DEPs and verified in an expanded sample set (37 NOA cases and 28 OA cases) through quantitative real-time polymerase chain reaction (qRT-PCR) and Western blot, confirming their dysregulation in NOA. These findings provide new proteomic insights into NOA, highlighting the disruption of membrane repair and structural pathways, and offer potential biomarkers for understanding its pathogenesis.

Humans↗
PubMed1979

Endocrine studies of azoospermia. II. Serum steroid levels in obstructive azoospermia.

Serum estrone, estradiol, estriol, progesterone, 17 alpha-hydroxyprogesterone, and testosterone were determined in the sera of 25 normal males and 25 patients with obstructive azoospermia. An increase in testosterone and estriol levels, and a decrease in other hormones were demonstrated in patients with obstructive azoospermia. These long-term effects of obstruction of the vas apparently also occur in comparable situations, for example, after vasectomy.

Adult↗
PubMed1978

Corrective surgery of obstructive azoospermia.

Obstructive azoospermia was corrected surgically in 233 cases of vasovasotomy and 97 cases of post-inflammatory epididymovasostomy. Good results were obtained for groups of: younger age; shorter duration of obstruction; bilateral vas-to-vas anastomosis level; bilateral end-to-end anastomosis technique; bilateral oozes; no splint; and vasovasostomy patients hospitalized for seven days. Satisfactory results were obtained for groups of: nontuberculous epididymal obstruction; side-to-side anastomosis technique; and bilateral vas-to-epididymal head anastomosis level in epididymovasostomy. Reversibility of post-vasectomy azoospermia averaged 82% for patency, and 34% for pregnancy, and for post-inflammatory azoospermia, 31% for patency, and 13% for pregnancy. Failure of operation was due mainly to fibrosis and sperm granuloma on the anastomosed site.

Adult↗
PubMed1977

[Reversible and irreversible azoospermia after irradiation of the malign tumor of the testicle (author's transl)].

Of the patients who had received radiotherapy for malignant testicular tumors between May 1957 and December 1975, 100 were alive without recurrence and without previous chemotherapy at the time of this study. An evaluable ejaculate could be examined in 52 of these patients. The patients were divided into eight groups according to the radiation fields employed. In this manner a direct correlation between the radiation field distribution, which determined the field size, and the development of azoospermia could be made. The appearance of azoospermia was also temporally related to the onset of radiotherapy. This is not the result of a tumor induced hormonal alteration. It is caused by destruction of the spermatogonia, the precursor cells of spermatozoa, and a resulting failure of spermatogenesis. This azoospermia is dependent on the irradiation received by the healthy testicle and may therefore be partially or totaly reversible or irreversible.

Adolescent↗
PubMed2026

A novel hemizygous missense variant in the BEND2 gene is associated with nonobstructive azoospermia.

Nonobstructive azoospermia (NOA), the most severe form of male infertility, frequently arises from genetic defects that disrupt spermatogenesis. In this study, a novel hemizygous missense variant (NM_001184767.2 [c.G1069A; p.V357I]) is identified in the X-linked BEN domain-containing 2 ( BEND2 ) gene of a patient with NOA characterized by spermatocyte maturation arrest. Whole-exome sequencing and Sanger validation confirmed that this rare variant is absent in fertile controls and that no pathogenic variants were detected in established NOA genes. Computational analysis predicted potential structural alterations via AlphaFold modeling, leading to the hypothesis that the ability of BEND2 to recognize genomic targets may be compromised. The patient's phenotype phenocopies the meiotic arrest observed in Bend2 -knockout mice. Expression profiling confirmed predominant BEND2 transcription in human and mouse testes, peaking in early spermatocytes and coinciding with meiotic initiation, with reduced transcript levels detected in the proband's peripheral blood compared with those in an obstructive azoospermia control. This study reports a pathogenic BEND2 variant associated with NOA with spermatocyte arrest, highlighting its critical role in human meiosis and expanding the genetic etiology of male infertility.

Adult↗
PubMed1978

The management of azoospermia.

Azoospermia in the presence of a normally functioning testis and a normal vasogram has been thought to be due to an obstruction in the epididymis between the body and the head. However, bypass operations have been singularly unsuccessful except when there was evidence of past inflammation causing fibrosis of the body and tail of the epididymis. Two substances, glycerylphosphorylcholine and carnitine, which are known to be secreted by the epididymis, were investigated. The results of this preliminary study suggest that they may play a part in the management of patients presenting with azoospermia.

Carnitine↗
PubMed1978

Obstructive azoospermia: respiratory function tests, electron microscopy and the results of surgery.

Forty-five patients have been treated surgically for obstructive azoospermia. Fifteen underwent reversal of vasectomy and 40% of the wives became pregnant. Thirty had epididymovasostomy, and in only 2 (6.5%) did the sperm count become normal, although a few poorly motile sperms appeared in the ejaculate in a further 4 patients. Congenital abnormalities of the vasa in 7 cases and post-inflammatory blocks in 4 cases were examples of obstructive azoospermia due to well defined causes. However, in half of the patients (15 cases) the cause was obscure although it was associated with sinusitis, bronchitis or bronchiectasis (Young's syndrome). The results of pulmonary function tests in 30 cases, and electron microscopic studies of cilia from epididymes (10 cases) and bronchial mucosa (2 cases) indicated that the basic abnormality might be malfunction of the microtubules which appeared to be ultrastructurally normal in most cases. One case appeared to be associated with dietary deficiency, and correction of diet coincided with a successful result of surgery.

Adult↗
PubMed1978

Ultrastructure of acrosomal malformations in men with obstructive azoospermia.

Testicular biopsies from ten infertile men with obstructive azoospermia were evaluated by light and electron microscopy. Light microscopic analysis revealed normal testicular pattern with active spermatogenesis and many spermatozoa. At ultrastructural level the majority of early spermatids presented acrosomal abnormalities that become evident during the approach of the acrosomal vesicle to the anterior pole of the nucleus, and in subsequent maturational stages; these spermatids continue their development until mature spermatozoa with malformed acrosomes. The type of malformation was very similar in all cases observed and was associated with the same type of seminiferous tubule pattern in patients with the same type of azoospermia. The abnormalities at acrosomal level were related to an abnormal differentiation rather than to degenerative changes. Acrosomal disturbance did not influence nucleus morphology or chromatin condensation.

Acrosome↗
PubMed2025

Identification of novel cytoskeleton protein involved in spermatogenic cells and sertoli cells of non-obstructive azoospermia based on microarray and bioinformatics analysis.

BACKGROUND: During mammalian spermatogenesis, the cytoskeleton system plays a significant role in morphological changes. Male infertility such as non-obstructive azoospermia (NOA) might be explained by studies of the cytoskeletal system during spermatogenesis. METHODS: The cytoskeleton, scaffold, and actin-binding genes were analyzed by microarray and bioinformatics (771 spermatogenic cellsgenes and 774 Sertoli cell genes). To validate these findings, we cross-referenced our results with data from a single-cell genomics database. RESULTS: In the microarray analyses of three human cases with different NOA spermatogenic cells, the expression of TBL3, MAGEA8, KRTAP3-2, KRT35, VCAN, MYO19, FBLN2, SH3RF1, ACTR3B, STRC, THBS4, and CTNND2 were upregulated, while expression of NTN1, ITGA1, GJB1, CAPZA1, SEPTIN8, and GOLGA6L6 were downregulated. There was an increase in KIRREL3, TTLL9, GJA1, ASB1, and RGPD5 expression in the Sertoli cells of three human cases with NOA, whereas expression of DES, EPB41L2, KCTD13, KLHL8, TRIOBP, ECM2, DVL3, ARMC10, KIF23, SNX4, KLHL12, PACSIN2, ANLN, WDR90, STMN1, CYTSA, and LTBP3 were downregulated. A combined analysis of Gene Ontology (GO) and STRING, were used to predict proteins' molecular interactions and then to recognize master pathways. Functional enrichment analysis showed that the biological process (BP) mitotic cytokinesis, cytoskeleton-dependent cytokinesis, and positive regulation of cell-substrate adhesion were significantly associated with differentially expressed genes (DEGs) in spermatogenic cells. Moleculare function (MF) of DEGs that were up/down regulated, it was found that tubulin bindings, gap junction channels, and tripeptide transmembrane transport were more significant in our analysis. An analysis of GO enrichment findings of Sertoli cells showed BP and MF to be common DEGs. Cell-cell junction assembly, cell-matrix adhesion, and regulation of SNARE complex assembly were significantly correlated with common DEGs for BP. In the study of MF, U3 snoRNA binding, and cadherin binding were significantly associated with common DEGs. CONCLUSION: Our analysis, leveraging single-cell data, substantiated our findings, demonstrating significant alterations in gene expression patterns.

Male↗
PubMed2026

[Study of a patient with azoospermia due to variant of MOV10L1 gene].

OBJECTIVE: To explore the clinical and genotypic characteristics of a patient with Sertoli cell-only syndrome (SCOS) due to variants of MOV10L1 gene. METHODS: A 27-year-old patient with Non-obstructive azoospermia (NOA) underwent routine semen analysis. Serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), progesterone (P), estradiol (E2), prolactin (PRL), and testosterone (T) were determined by chemiluminescence assays. Peripheral blood samples were collected for G-banded karyotyping analysis. Multiplex PCR fluorescence detection was used to screen for AZF gene microdeletions. Whole exome sequencing (WES) and Sanger sequencing were performed simultaneously. Testicular biopsy tissues were subjected to Hematoxylin-Eosin (HE) staining to assess seminiferous tubule cell composition, and MOV10L1 protein expression was detected by immunohistochemical staining. Bioinformatics tools were employed to predict the pathogenicity of variants and their impact on protein structure and function. This study was approved by the Medical Ethics Committee of the Guangdong Institute of Reproductive Sciences [Ethics No.: 2023(01)]. RESULTS: The patient's two semen analyses had failed to detect any sperm. Hormone tests indicated elevated FSH (22.32 mIU/mL) and PRL (397.6 mIU/mL), while T (3.68 nmol/L) and E2 (38.32 pmol/L) were reduced. Chromosomal karyotyping revealed 46,XY, and no AZF gene deletion was detected. WES and Sanger sequencing detected compound heterozygous variants of the MOV10L1 gene, including a c.345C>A (p.C115X) nonsense variant and a c.3323C>T (p.T1108I) missense variant, with the former being unreported previously. HE staining showed only Sertoli cells in the seminiferous tubules, confirming the diagnosis of SCOS. Immunohistochemical staining revealed absent MOV10L1 protein expression in the testicular tissue. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG), the c.345C>A (p.C115X) was classified as a pathogenic variant (PVS1+PM2_Supporting+PP4), while the c.3323C>T (p.T1108I) was deemed variant of uncertain significance (PM2_Supporting+PP3_Supporting+PP4). Bioinformatics analysis demonstrated that c.345C>A (p.C115X) may cause premature termination of protein translation, while c.3323C>T (p.T1108I) may disrupt the hydrophobicity of the RNA helicase domain, reducing the active pocket volume and decreasing its affinity for MILI protein. CONCLUSION: This study has diagnosed a case of SCOS due to compound heterozygous variants of the MOV10L1 gene, which also enriched its mutational spectrum.

Humans↗
PubMedDate not supplied

The relationship between plasma FSH, testosterone levels and testicular histology in males with azoospermia.

The plasma FSH and testosterone levels were determined by the radioimmunological method in 27 men with azoospermia. The plasma FSH levels were elevated in the Sertoli-cell only syndrome and in the case of inhibited spermatogenesis. The plasma FSH level was normal in patients with normal spermatogenesis. The plasma testosterone level did not differ from the normal values in any of the above-mentioned groups of patients.

Adult↗
PubMed1979

Serum sperm antibodies in cases of azoospermia: comparative diagnostic value of separate and combined, agglutination, immoblization and cytotoxic serological tests.

To study the diagnostic value of various serological tests in the detection of serum sperm antibodies a group of 50 patients with azoospermia was studied. Cases were divided by testicular biopsy into: 32 obstructive and 16 non obstructive cases. Tests applied included a microagglutination and a macroagglutination test as well as 2 complement dependent tests; a sperm cytotoxic and a sperm immobilization tests. Applied separately the macroagglutination was the most sensitive test but used together, more cases were detected. Because of this and the different value and significance of each test, it is advisable to use more than one test in the investigations of cases of male infertility.

Adult↗
PubMed1977

Effect of thyrotrophin-releasing hormone on serum prolactin levels in men with azoospermia.

Infertile men with azoospermia and low testosterone levels because of Klinefelter's or Sertoli cell-only syndrome responded to a single injection of TRH by an increase in serum prolactin levels. The degree of this response was not as great as in fertile men with normospermia and normal testosterone levels, although initial prolactin levels had been similar in both groups. The results demonstrate a link between testosterone and prolactin levels in fertile and infertile men.

Humans↗
PubMed1978

Testicular biopsy of secretory azoospermia: electron and light microscopic analysis.

The histological and ultrastructural features of testicular cells were examined in testes with secretory azoospermia in seven patients with germinal cell arrest, two with Sertoli-cell-only; and one with tubular hyalinization. Germinal cell arrest was characterized by the presence of spermatogonia AD, AP, B, and some primary spermatocytes: these cells had similar ultrastructural features typical of the adult normal testis. Sertoli cells contained large number of various lipid inclusions and lipofuscin bodies. The multilayered peritubular wall presented increased collagen fibers. The cytoplasm of Leydig cells was filled with dilated vesicles of smooth endoplasmic reticulum and precursors of Reinke crystalloids. A blockage in the seminiferous tubules occurred after puberty, when tubular components, peritubular wall and Leydig cells had reached maturity.

Adult↗
PubMed1979

Serum immunoglobulins IgG and IgM in the seminal plasma of men with normospermia, oligozoospermia, and azoospermia.

The seminal plasma of eight males with normospermia, seven with oligozoospermia, and eight with azoospermia was examined for the presence of IgG and IgM by means of double-gel immunodiffusion. IgG was present in every seminal plasma sample. The highest titers of IgG were found in azoospermic and normospermic samples, but the lowest IgG titers were seen only in normospermic samples. IgM was detected only in some cases, mainly in the azoospermic group. Testicular biopsy was performed in all the azoospermic patients, but IgM was found only in the cases demonstrating spermatogenic arrest and was not found in the cases with complete spermatogenesis. It is concluded that the IgM present in the seminal plasma was of testicular origin and was associated with injury of the male genital system.

Adult↗
PubMed1979

Varicocelectomy in patients with azoospermia.

The results of surgical treatment of 33 men with azoospermia and varicocele are presented. Microscopic examination of a testicular biospy revealed the Sertoli-cells-only syndrome in nine subjects while degenerative changes in the seminiferous tubules of one or both testes were present in another six persons. In 15 cases decreased spermatogenesis was noted in the testis on the side ipsilateral to the varicocele. In the remaining three subjects the biopsy revealed active spermatogenesis but with absent spermiogenesis. In all cases the changes were equal or more advanced on the affected side. Improvement of the spermiogram was noted in 12 men (34%) and spermatozoa appeared in the ejaculate within 2 to 14 months after operation. In three spouses four gestations occurred. Only in one case where the spermiogram showed improvement were the degenerative changes present in both testes. In the remainder of subjects demonstrating improvement in semen quality, irreversible changes were absent in at least one testis.

Adult↗
PubMed1979

Sperm antibodies in men with oligozoospermia and azoospermia.

Spermatozoal antibodies found in the sera of oligozoospermic and azoospermic men are often related to infertility or subfertility. In this study the sera of 36 such men were examined for the presence of sperm antibodies. During the routine analysis of the semen, note was taken of the type and degree of agglutination in the ejaculates. The semen and serum of 15 normozoospermic men were used as controls. The gelatin agglutination, micro-agglutination and tube-slide agglutination tests were compared. A correlation between the state of fertility and the presence of sperm antibodies was found. The presence of sperm antibodies is more likely to be a corollary than a cause of oligozoospermia or azoospermia.

Antibodies↗