Male infertility due to testicular disorders

A Sharma, S Minhas, WS Dhillo… - The Journal of Clinical …, 2021 - academic.oup.com
… These are the most common structural autosomal abnormalities in infertile men, affecting
1/1000 men, with a higher prevalence in oligozoospermic men (1.6%) (64). These can be …

Possible fetal determinants of male infertility

A Juul, K Almstrup, AM Andersson, TK Jensen… - Nature Reviews …, 2014 - nature.com
… histological signs of dysgenesis in the testicular biopsy specimens of many infertile men. The
most severe gonadal symptoms occur in patients with genetic mutations, in whom even sex …

Germline and somatic mosaicism in transgenic mice

TM Wilkie, RL Brinster, RD Palmiter - Developmental biology, 1986 - Elsevier
… Several of the mice that exhibited germline mosaicism were studied in more detail to … caused
transgenic sperm infertility. We described a similar mutation that causes transmisMale 63-7 (…

[HTML][HTML] Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

SR Lee, TH Lee, SH Song, DS Kim… - Clinical and …, 2021 - ncbi.nlm.nih.gov
… with 9p deletion syndrome and XY gonadal dysgenesis [58]. Smaller deletions and mutations
of this gene have been identified in patients with NOA without XY gonadal dysgenesis [59]. …

[HTML][HTML] Mosaic ring Y chromosome in two normal healthy men with azoospermia

V Bertini, D Canale, MP Bicocchi, P Simi, A Valetto - Fertility and Sterility, 2005 - Elsevier
… Once testes differentiate, their male endocrine function is responsible for the rest of events …
Even if the r(Y) mosaicism could be evaluated only in the peripheral blood, because gonadal

Mosaic AZF deletions and susceptibility to testicular tumors

NO Bianchi, SM Richard, P Peltomäki… - … Molecular Mechanisms of …, 2002 - Elsevier
… being attributable to male infertility. Moreover, 1–55% of infertile men have been reported to
… in mice, produce abnormal meiosis, infertility, germline MSI, and susceptibility to lymphomas …

Mendelian genetics of male infertility

K Hwang, AN Yatsenko, CJ Jorgez… - Annals of the New …, 2010 - Wiley Online Library
… Our investigations focused on the detection of missense and splicing KLHL10 mutations
in male germline mRNAs obtained from semen samples of OZS infertile men. We identified …

Sperm from infertile, oligozoospermic men have elevated mutation rates

J Kunisaki, ME Goldberg, S Lulla, TA Sasani, L Hiatt… - medRxiv, 2024 - medrxiv.org
… of germline mutations in large, multigenerational pedigrees, we found that men in the highest
quartile of age-adjusted germline … between germline mutagenesis and male subfertility, we …

Transvestism and fertility in a chromosomal mosaic

RH Dowling, SJ Knox - Postgraduate Medical Journal, 1963 - ncbi.nlm.nih.gov
… (iii) The fertility of patients showing mosaic patterns of sex chromosomes of the Klinefelter
type. Raboch, Sipova and Maly (I96I), in a study of 6oo men with sexual disturbances, found a …

Genetic analysis of sperm and implications of severe male infertility—a review

J Egozcue, J Blanco, E Anton, S Egozcue, Z Sarrate… - Placenta, 2003 - Elsevier
… As shown along this review, spermatozoa from infertile males have a higher incidence of
chromosome abnormalities than fertile individuals. Chromosome anomalies are present in …