[PDF][PDF] Overview of Genetics in Infertility

S Kalapahar, S Sharma, R Chattopadhyay… - Bulletin of Institute of … - irmkolkata.org
… Approximately 10– 15% of individuals with XY gonadal dysgenesis have deletions or … 23
Among the infertile men, 55% of men with maturation arrest and Sertoli cell only syndrome have …

Unbiased mosaic variant assessment in sperm: A cohort study to test predictability of transmission

MW Breuss, X Yang, V Stanley, J McEvoy-Venneri… - Elife, 2022 - elifesciences.org
… , we first identified male gonadal mosaicism through deep whole … Here, we demonstrate
that gonadal mosaic mutations … gonadal mosaicism assessment, we recruited three infertile

Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45, X/46, XY mosaicism

…, Mosaicism Collaborative Group - The Journal of …, 2011 - academic.oup.com
… The objective of the study was to test the hypothesis that gonadal histology and risk for
development of a … The adult man is infertile but testosterone levels are adequate without hormone …

Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

YH Lee, T Kim, MH Kim, YT Kim, SH Kim - Experimental & Molecular …, 2000 - nature.com
… in these men. Another possible explanation is gonadal mosaicism, the mosaic father might
… karyotypic anomaly to be found among infertile men. Azoospermia is almost the rule in …

Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion

S Egozcue, J Blanco, JM Vendrell… - Human reproduction …, 2000 - academic.oup.com
… Human male infertility is often related to chromosome abnormalities. In chromosomally normal
infertile males, … Meiotic disorders are frequent in infertile males, and increase with severe …

Clinical aspects of infertile 47, XYY patients: a retrospective study

P Borjian Boroujeni, M Sabbaghian… - … Fertility, 2019 - Taylor & Francis
… are usually tall and thin, with normal appearance and normal gonadal function. The function
of the … In this study, 38 cases of infertile men referred to the Royan Institute due to infertility

[HTML][HTML] Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility

IA Olesen, AM Andersson, L Aksglaede… - Fertility and sterility, 2017 - Elsevier
… their origin in a prenatal impairment of gonadal development and therefore may be classified
within … We hypothesize that TDS is often a cause of low semen quality among infertile men. …

Cutting-edge evaluation of male infertility

UI Pathak, JS Gabrielsen, LI Lipshultz - Urologic Clinics, 2020 - urologic.theclinics.com
… an up-to-date guide to the diagnostic workup of the infertile man and highlight advances
in the field that may greatly expand our ability to diagnose and treat these men in the future. …

The genetics of male infertility

TJ Walsh, RR Pera, PJ Turek - Seminars in reproductive …, 2009 - thieme-connect.com
… in which 90% of men carry an extra X chromosome (47,XXY) and 10% are mosaic with a …
into spermatids, or that somatic–germ line mosaicism is more common than previously thought. …

Microdissection testicular sperm extraction in five Japanese patients with non‐mosaic Klinefelter's syndrome

M Chihara, K Ogi, T Ishiguro, K Yoshida… - Reproductive …, 2018 - Wiley Online Library
men with non-mosaic KS that were included in this analysis were all Japanese. Informed
written consent was obtained from all the patients for infertility … product of a normal germ line.23 …