Publications by authors named "A M Punab"
Data on the clinical validity of DNA copy number variants (CNVs) in spermatogenic failure (SPGF) is limited. This study analyzed the genome-wide CNV profile in 215 men with idiopathic SPGF and 62 normozoospermic fertile men, recruited at the Andrology Clinic, Tartu University Hospital, Estonia. A two-fold higher representation of > 1 Mb CNVs was observed in men with SPGF (13%, n = 28) compared to controls (6.
View Article and Find Full Text PDFInfertility affects around 7% of men worldwide. Idiopathic non-obstructive azoospermia (NOA) is defined as the absence of spermatozoa in the ejaculate due to failed spermatogenesis. There is a high probability that NOA is caused by rare genetic defects.
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- Luteinizing hormone (LH) is crucial for reproduction and its variant (V-LH) is linked to higher LH levels and reduced fertility in women, though effects on males are less clear.
- A study involving young men and infertility patients discovered that V-LH was associated with increased serum LH levels in both groups, with statistical significance even after adjusting for other gene variants that affect LH.
- Additionally, there was a potential association of V-LH with smaller testicular volume in young men and lower serum FSH in infertility patients, but it did not impact sperm quality or other reproductive hormones.
Follicle-Stimulating Hormone Receptor (FSHR) -29G/A polymorphism (rs1394205) was reported to modulate gene expression and reproductive parameters in women, but data in men is limited. We aimed to bring evidence to the effect of FSHR -29G/A variants in men. In Baltic young male cohort (n = 982; Estonians, Latvians, Lithuanians; aged 20.
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