However, in cases with negative TESE only smoking was identified as a predictive factor for negative sperm retrieval and was established as a risk factor.<b>Abbreviations:</b> AZF: azoospermia factor; BMI: body mass index; Crypt: cryptozoospermia; FSH: Follicle-Stimulating Hormone; ICSI: intracytoplasmic sperm injection; IU: international unit; KS: Klinefelter syndrome; LH: Luteinizing Hormone; mL: milliliter; NOA: non-obstructive azoospermia; OA: obstructive azoospermia; T: testosterone; TESA: testicular sperm aspiration; TESE: testicular sperm extraction.
Similarly, expressions of BNC1, TAF7L, YBX2, ODF1, and GAPDHS were significantly decreased in the testis of men with non-obstructive azoospermia (NOZ).
The relatively high incidence of likely NOA-causing mutations in MEIOB that was found in our cohort supports the idea that a complete screening of this gene might be beneficial for clinical evaluation of NOA patients.
Supported by a robust statistical analysis, we conclude that serum FSH level cannot be considered a prognostic marker of spermatogenic dysfunction in patients with NOA.
For the first time, we report biallelic variants in STAG3, in one sporadic patient, and a homozygous RNF212 variant, in the two brothers, as the genetic cause of NOA.
For the first time, we report biallelic variants in STAG3, in one sporadic patient, and a homozygous RNF212 variant, in the two brothers, as the genetic cause of NOA.
The association of CD133 and CD24 with spermatogenesis defects was investigated in patients with obstructive (O) and non-obstructive azoospermia (NOA).
We investigated if substitutions in the ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway correlate with non-obstructive azoospermia and male infertility.
CD133 expression in NOA group was found to be significantly different from OA and this was confirmed by immunohistochemistry and immunocytochemical assays.
The objective of this study was to explore the relationship between non-obstructive azoospermia (NOA) and single-nucleotide polymorphisms in the angiotensin-converting enzyme gene (ACE) using ligase detection reaction (LDR)-PCR.
During the last decade, several studies have reported the presence of different polymorphisms in USP26 in patients with non-obstructive azoospermia (NOA) or severe oligozoospermia suggesting that this gene may be associated with human infertility.
As further evidence, we detected two additional NOA-affected case subjects with independent FANCM homozygous nonsense variants, one from Estonia (p.Gln1701<sup>∗</sup>; rs147021911) and another from Portugal (p.Arg1931<sup>∗</sup>; rs144567652).
Expression level of ZMYND15 may have potential for prediction of successful SR with sensitivity of 90% and specificity of 60% for total population and sensitivity of 100% and specificity of 75% for NOA, according to the receiver operating characteristics curve.
This study demonstrates a significant association between the expression of JMJD1A and the success of sperm recovery in patients with NOA, and thus suggests that JMJD1A expression quantification in testicular biopsies may be a valuable biomarker along with conventional parameters in predicting the presence of spermatozoa.
To compare the expression levels of ZMYND15 and its target haploid genes (TNP1, PRM1, and SPEM1) in testicular samples of non-obstructive azoospermia (NOA) vs obstructive azoospermia (OA).
Here we carried out a retrospective case-control study to find out whether there is a correlation between mast cell (MC) count and proliferation (Ki67 index) of the spermatogenic epithelium as well as of the Sertoli cells (vimentin-positive) in non-obstructive azoospermia (NOA).