Commentary on Non-obstructive Azoospermia (NOA); From Past to the Present

Birgani, Maryam Tahmasebi

doi:10.5812/jjcmb.115298

Cited by 3 publications

(2 citation statements)

References 26 publications

(34 reference statements)

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“…One of the reasons for male infertility is disturbed spermatogenesis, which can be manifested as nonobstructive azoospermia. In more than 40% of men with impaired spermatogenesis, the aetiology remains unknown after the standard diagnostic tests are performed, although the molecular background can be envisaged 2 , 3 . The use of high-throughput genome-wide systemic analysis tools, such as next-generation sequencing (NGS) and international consortium projects (e.g., HapMap, 1000 Genomes Project), allowed genomic research at a large scale.…”

Section: Introductionmentioning

confidence: 99%

ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia

Malcher,

Graczyk,

Bauer

et al. 2023

Sci Rep

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Infertility is a problem that affects approximately 15% of couples, and male infertility is responsible for 40–50% of these cases. The cause of male infertility is still poorly diagnosed and treated. One of the prominent causes of male infertility is disturbed spermatogenesis, which can lead to nonobstructive azoospermia (NOA). Whole-genome sequencing (WGS) allows us to identify novel rare variants in potentially NOA-associated genes, among others, in the ESX1 gene. The aim of this study was to activate the ESX1 gene using CRISPRa technology in human germ cells (testicular seminoma cells—TCam-2). Successful activation of the ESX1 gene in TCam-2 cells using the CRISPRa system was achieved, and the expression level of the ESX1 gene was significantly higher in modified TCam-2 cells than in WT cells or the negative control with nontargeted gRNA (p < 0.01). Using RNA-seq, a network of over 50 genes potentially regulated by the ESX1 gene was determined. Finally, 6 genes, NANOG, CXCR4, RPS6KA5, CCND1, PDE1C, and LINC00662, participating in cell proliferation and differentiation were verified in azoospermic patients with and without a mutation in the ESX1 gene as well as in men with normal spermatogenesis, where inverse correlations in the expression levels of the observed genes were noted.

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Section: Introductionmentioning

confidence: 99%

ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia

Malcher,

Graczyk,

Bauer

et al. 2023

Sci Rep

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“…The most difficult form of male infertility to treat is azoospermia [5,10,11,13,17,21,24]. Azoospermia is defined as the complete absence of spermatozoa in the ejaculate.…”

Section: Introductionmentioning

confidence: 99%

Morpho-Functional Characteristics of the Testicles of Men With Different Forms of Pathospermia

Vorobets¹,

Melnyk²,

Фафула³

et al. 2023

Scientific and practical journal

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The most difficult form of male infertility to treat is azoospermia. It is identified as a complete absence of sperm in the ejaculate. Depending on the nature and causes of impaired spermatogenesis, azoospermia is divided into obstructive (excretory, OA) and non-obstructive (secretory, NOA). Testicular biopsy is the most effective method of diagnosis and a component of possible treatment for azoospermia. It is the only objective method of differential diagnosis between non-obstructive and obstructive forms of azoospermia. The aim: histological analysis of testicular biopsies of men with various forms of azoospermia. Мaterials and Methods. 78 infertile men with azoospermia were examined. They were divided into two groups: the first group, men with NOA (n = 28); the second group, men with OA (n = 50). The biopsy was preceded by a mandatory ultrasound diagnosis of the portal system. The biopsy was performed using the method of open operative access. Biopsies were mostly taken from the more palpable testicle or from both testicles. Biopsies were fixed in buffered 10% formalin (pH 7.2). After 1 day, they were dehydrated in 70% ethanol and embedded in paraffin. For histological studies, sections with a thickness of 5 μm were stained with hematoxylin and eosin. Biopsies were evaluated in accordance with previously described methods. Results. Histological analysis of testicular biopsies from 28.7% of patients with a non-obstructive form of azoospermia showed swelling of the testicular stroma, destructive changes in testosterone-producing cells, disruption of the structure of the syncytial complexes of the spermatogenic epithelium, and the complete absence of the process of spermatogenesis in individual tortuous seminiferous tubules, the absence of contacts between sustentocytes, and in erythrocyte sludge in the lumen of vessels. 42.8% of patients had fibrosis of the testicular stroma, stroma swelling, thinning of the wall of convoluted seminiferous tubules, violation of the structure of the syncytial complexes of the spermatogenic epithelium, proliferation of the wall of the convoluted seminiferous tubules into their lumen, and infiltration of the testicular stroma with lymphocytes. In 54.0% of patients with preserved spermatogenesis and an obstructive form of azoospermia, it was possible to find a history of orchoepididymitis in the anamnesis; one patient (2.0%) underwent bilateral orchopexy at the age of 5 years due to cryptorchidism; 6.0% recalled the trauma calculi in the anamnesis; and 38.0% denied any factors affecting fecundity in the anamnesis. Conclusions. The non-obstructive form of azoospermia is characterized by the following parameters: mostly a violation of the structure of the spermatogenic epithelium, a complete absence of the process of spermatogenesis in individual convoluted seminiferous tubules, a violation of the structure of the hematotesticular barrier, and a violation of blood microcirculation. The histological picture of preserved spermatogenesis is of the same type in 88.0% of patients with an obstructive form of azoospermia. In most tubules, a fixed number of cell rows is preserved, and cells of various stages of spermatogenesis are determined in them: spermatogonies, spermatocytes, a moderate number of spermatids. In the lumen of the tubules, exfoliated cells and a moderate number of spermatozoa are found.

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Association of TNF-α-308, IL-1b and Glutathione-S-1 Transferases GSTS (M1/T1) Genes Polymorphism with Male Infertility Risk in Egyptian Population

Elsaid,

Ramzy,

El-Bayoumi

et al. 2024

Earth and Environmental Sciences Library

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Commentary on Non-obstructive Azoospermia (NOA); From Past to the Present

Cited by 3 publications

References 26 publications

ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia

ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia

Morpho-Functional Characteristics of the Testicles of Men With Different Forms of Pathospermia

Association of TNF-α-308, IL-1b and Glutathione-S-1 Transferases GSTS (M1/T1) Genes Polymorphism with Male Infertility Risk in Egyptian Population

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