Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine.
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.
The testicular samples of infertile men with impaired spermatogenesis (non-obstructive azoospermia) expressed Mas and ACE2 mRNA at lower concentrations (fold change = 0.06 and 0.04, respectively, P < 0.05) than samples with full spermatogenesis (obstructive azoospermia).
After two rounds of screening, SNPs of the ADP-ribosyltransferase 3 gene (ART3) were associated with NOA with highest significance with ART3-SNP25 (rs6836703; p = 0.0025) in 442 NOA patients and 475 fertile men.
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.
Aproximately 10% of patients with non-obstructive azoospermia and 5% with non-obstructive severe oligozoospermia carry AZF region microdeletions (AZoospermic Factor) in the Y chromosome.
Combined analysis using directly genotyped data for Stages 1 and 2 revealed that rs1406714 in CHD2 was associated with decreased risk of NOA [odds ratio (OR) = 0.78, 95% confidence interval (CI) = 0.68-0.89, Pmeta = 1.7E-04], whereas rs2126986 in GNAO1 and rs7226979 in BCL2 were both risk makers for NOA (rs2126986: OR = 1.28, 95% CI = 1.15-1.41, Pmeta = 2.3E-06; rs7226979: OR = 1.21, 95% CI = 1.11-1.33, Pmeta = 4.5E-05).
FSH levels were significantly higher [18.9 IU/L (5.9-27.0) vs. 15.3 IU/L (9.0-46.5), p = 0.001] and the majority of inhibin B levels measured were found mostly undetectable in the NOA group as compared to EOS/CS group (31.1% vs. 10.7%, p = 0.0004).
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.
One hundred and seven presumed non-obstructive azoospermia (NOA) patients, according to conventional clinical parameters (volume of testis, FSH, clinical history) were submitted to testicular biopsy with TESE.
Here, we considered potential associations of 14 single nucleotide polymorphisms (SNPs) in RNF8 and BRDT genes in Chinese patients with non-obstructive azoospermia (NOA).
The association of CD133 and CD24 with spermatogenesis defects was investigated in patients with obstructive (O) and non-obstructive azoospermia (NOA).
From our comprehensive review, 12 case-control studies were found concerning the relation between CFTR gene mutations and polymorphism and NOA disease.