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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↗
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↗
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↗
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↗
PubMedDate not supplied

Leydig cells within the lamina propria of seminiferous tubules in four patients with azoospermia.

Mature, polygonal Leydig cells within the thickened lamina propria of the seminiferous tubules are commonly found in three cases of cryptorchidism and one case of Sertoli-cell-only syndrome. By contrast, under normal conditions Leydig cells between the peripheral layers of the peritubular tissue were only occasionally met in a spindle-shaped variant. In both instances, Leydig cells were positively identified in the electron microscope by characteristic features such as anabundant smooth endoplasmic reticulum, tubular inclusions and crystals of Reinke. The development of Leydig cells from myoid contractile cells within the lamina propria is discussed.

Cryptorchidism↗
PubMed1976

Modern trends of surgical treatment in male infertility: alloplastic spermatocele in cases of excretory azoospermia.

It is demonstrated in 30 rats that implantation of a cup-shaped silicone prothesis upon the head and the tail of the epididymis can serve as an alloplastic spermatocele. The implantation of six similar protheses upon the epididymis in bulls confirms the results obtained in rats. Spermatozoa aspirated from this prothesis up to 4 months after operation showed good morphology and motility which improved: (1) the earlier they were obtained after surgery, and (2) the nearer the tail of the epididymis, the prothesis was implanted.

Animals↗
PubMed2026

Deoxyribonucleic acid methylation abnormalities at imprinted loci in oligospermic and azoospermic men.

OBJECTIVE: To assess deoxyribonucleic acid (DNA) methylation at imprinted and repetitive genomic regions in ejaculated and testicular sperm from men with oligospermia, azoospermia, and those undergoing vasectomy reversal (VR), compared with fertile controls. DESIGN: Observational case-control study. SUBJECTS: Samples were obtained from 68 men, including 29 infertile men (18 oligospermic [5-15 million/mL], 11 severely oligospermic [<5 million/mL]) and 20 fertile controls with confirmed natural conceptions. Testicular tissue was collected from 11 azoospermic men (7 obstructive azoospermia [OA], 4 nonobstructive azoospermia [NOA]) and 8 men with prior paternity undergoing VR. EXPOSURE: Sperm DNA methylation at four imprinted genes (H19, GTL2, MEST, and LIT1) and one repetitive element (LINE1). MAIN OUTCOME MEASURES: Methylation levels at CpG sites determined by bisulfite pyrosequencing. RESULTS: The H19 was significantly hypomethylated only in severe oligospermia compared with fertile controls, whereas other groups showed nonsignificant trends with overlapping distributions. In contrast, MEST was significantly hypermethylated in oligospermic, azoospermic, and VR groups compared with fertile controls. No significant differences were observed for GTL2, LIT1, or LINE1. CONCLUSION: The DNA methylation abnormalities in sperm are locus-specific and vary across infertility phenotypes. MEST alterations were consistent across groups, whereas H19 changes were limited to severe oligospermia. Similar methylation patterns in testicular sperm from azoospermic and VR groups suggest that epigenetic alterations may reflect the testicular environment or obstruction, or differences between testicular and ejaculated sperm.

Humans↗
PubMedDate not supplied

[Plasma concentrations and urinary excretion of gonadotropins in azoo and oligospermia. Relationship with spermatogenesis and plasma concentration of androgens (author's transl)].

Plasma concentrations and urinary excretions rate of gonadotropins, testosterone, delta 4-androstenedione, dehydroepiandrosterone and 17 and 17 alpha-hydroxyprogesterone plasma concentrations have been studied in 69 patients with oligo or azoospermia and compared with results obtained in 30 normal control subjects. A sperm count and a caryotype have been done in all patients and a testicular biopsy in 35. Analysis of the histo-hormonal correlations does not show a particular stage of spermatogenesis associated with a modification in FSH production. There is a quantitative relationship between spermatogenesis and FSH production. Plasma testosterone is low and LH production normal in excretory azoospermia. In the other patients plasma testosterone is also low but associated with an increased production of LH. Finally there is a direct relationship between urinary excretion of LH and FSH in both normal subjects and patients, suggesting a modulation by specific factors of a common regulation of the secretion of both gonadotropins.

Adult↗
PubMed1977

Fine structure of Sertoli and Leydig cells in azoospermic human testis.

Testicular biopsy specimens taken from seven patients with azoospermia were studied by electron microscopy. We considered the possibility of a relationship between the annulate lamellae in the Sertoli cells and azoospermia. In the Leydig cells, we observed intranuclear and intracytoplasmic paracrystalline inclusions and considered their relationship with the Reinke crystalloid.

Adult↗
PubMed1979

Gonadal function after renal allotransplantation.

Our data suggest that impaired testicular function was corrected, but not completely, by renal allotransplantation. One patient with impaired renal function showed azoospermia and six patients with normal renal function oligospermia. It was observed that conception might occur when the sperm count was below 10 million/ml. The elevated FSH among patients with azoospermia or oligospermia indicates a responsive pituitary. The positive clomiphene test suggests that the function of the hypothalamo-hypophysial axis is normal.

Adult↗
PubMed1978

Chromosomes and the gynecologist.

Recent advances in cytogenetic techniques made a valuable contribution toward the modern practice of obstetrics and gynecology. The state of the art regarding the application of these techniques is reviewed in the following areas: the clinical features related to the various sex and autosomal chromosomal anomalies, the cytogenetics of gynecologic malignancies, the chromosomal analysis of spontaneous abortion and of parents with habitual abortions. Chromosome studies in male infertility revealed abnormalities in 11.5 per cent of 69 patients with azoospermia and 9.1 per cent of 165 patients with oligospermia. Among 77 patients with primary amenorrhea, 27.3 per cent revealed chromosomal abnormalities compared to 3.8 per cent in 103 patients with secondary amenorrhea. The term "ovotesticular dysgenesis" is used for the first time in the literature to describe a specific histologic type of streak gonad which contains ovarian stroma and dysgenetic testicular tubules.

Abortion, Habitual↗
PubMed2026

Cohesin variants associated with human reproductive and developmental disorders.

The cohesin complex is an evolutionarily conserved multi-subunit protein assembly essential for sister chromatid cohesion, meiotic recombination, DNA double-strand break repair, and transcriptional regulation. Pathogenic variants in its subunits are implicated in a spectrum of reproductive and developmental disorders, including non-obstructive azoospermia, premature ovarian insufficiency, reproductive aging, aneuploidy, Cornelia de Lange syndrome, Roberts syndrome, cancer, and neuropsychiatric disease. Consequently, identifying cohesin mutations is a priority for precision diagnostics and personalized medicine. This review systematically summarizes the cohesin variants linked to these pathologies, exploring their molecular mechanisms and clinical manifestations. A deeper understanding of these variants is crucial not only for deciphering disease etiology but also for guiding the development of targeted diagnostic strategies and therapeutic interventions, ultimately improving patient management and outcomes.

Humans↗
PubMed1979

Treatment and follow-up of patients with infertility due to spermagglutinins.

A therapeutic trial based on pharmacologically induced azoospermia followed by the administration of corticosteroids was carried out in 48 patients with infertility due to spermagglutinins. Three types of responses were observed: type A, no modifications in the blood and spermagglutinating (SA) titer (19 cases); type B, disappearance or significant decrease in SA titer during treatment, with return to normal values upon resumption of spermatogenesis (7 cases); and type C, disappearance or significant decrease in SA titer for at least 1 year after stopping treatment (22 cases). Within the 1st year after stopping therapy only men who responded in type C fashion were able to impregnate partners, three pregnancies ended in abortion and nine in normal births.

Autoantibodies↗
PubMed1975

Return of spermatogenesis after stopping cyclophosphamide therapy.

A follow-up of twenty-six male patients with azoospermia after stopping cyclophosphamide treatment showed a return of spermatogenesis in twelve patients within 15-49 months (mean 31 months). In one patient spermatogenesis returned despite 34 months of treatment with 100 mg. of cyclophosphamide daily. The period of follow-up after stopping cyclophosphamide therapy varied from 5 months to 4 years. After 6 months on cyclophosphamide all patients remained azoospermic while taking the drug. Return of spermatogenesis was not significantly associated with age, duration of cyclophosphamide therapy, total dose, or time of follow-up after stopping treatment; however, the number of patients in the study was small.

Adult↗
PubMed1977

Infertility in male pesticide workers.

A number of cases of infertility were discovered among men working in a California pesticide factory. The suspected cause was exposure to the chemical 1,2-dibromo-3-chloropropane (D.B.C.P.). The major effects, seen in 14 of 25 non-vasectomised men, were azoospermia or oligospermia and raised serum-levels of follicle-stimulating hormone and luteinising hormone. No other major abnormalities were detected, and testosterone levels were normal. Although a quantitative estimation of exposure could not be obtained, the observed effects appeared to be related to duration of exposure to D.B.C.P.

Adult↗