Genetics of male infertility

FTL Neto, PV Bach, BB Najari, PS Li… - Current urology reports, 2016 - Springer
While 7% of the men are infertile, currently, a genetic etiology is identified in less than 25%
of those men, and 30% of the infertile men lack a definitive diagnosis, falling in the …

[HTML][HTML] Male infertility and genitourinary birth defects: there is more than meets the eye

N Punjani, DJ Lamb - Fertility and sterility, 2020 - Elsevier
Male factor infertility is a significant problem present in up to 50% of infertile couples. The
relationship between male infertility and systemic disease is of significant interest, and …

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive

QY Wu, N Li, WW Li, TF Li, C Zhang, YX Cui, XY Xia… - BMC urology, 2014 - Springer
Background To review the possible mechanisms proposed to explain the etiology of 46, XX
sex reversal by investigating the clinical characteristics and their relationships with …

The role of number of copies, structure, behavior and copy number variations (CNV) of the Y chromosome in male infertility

F Signore, C Gulìa, R Votino, V De Leo, S Zaami… - Genes, 2019 - mdpi.com
The World Health Organization (WHO) defines infertility as the inability of a sexually active,
non-contracepting couple to achieve spontaneous pregnancy within one year. Statistics …

46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature

TF Li, QY Wu, C Zhang, WW Li, Q Zhou, WJ Jiang… - BMC urology, 2014 - Springer
Background 46, XX testicular disorder of sex development is a rare genetic syndrome,
characterized by a complete or partial mismatch between genetic sex and phenotypic sex …

[HTML][HTML] Ten cases with 46, XX testicular disorder of sex development: single center experience

EC Akinsal, N Baydilli, A Demirtas, C Saatci… - International braz j …, 2017 - SciELO Brasil
Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-
positive 46, XX testicular disorder of sex development who were admitted to our infertility …

Syndromic male subfertility: A network view of genome–phenome associations

Š Mikec, Ž Kolenc, B Peterlin, S Horvat, N Pogorevc… - …, 2022 - Wiley Online Library
Background Male infertility is a disorder of the reproductive system with a highly complex
genetic landscape. In most cases, the reason for male infertility remains unknown; however …

Chromosome abnormalities related to reproductive and sexual development disorders: a 5‐year retrospective study

S Benchikh, A Bousfiha, L Razoki… - BioMed Research …, 2021 - Wiley Online Library
Chromosomal abnormalities are the main genetic risk factor associated with reproductive
and sexual development disorders (DSD). The goal of this study is to retrospectively …

46, XX males: a case series based on clinical and genetics evaluation

F Mohammadpour Lashkari, M Totonchi… - Andrologia, 2017 - Wiley Online Library
Summary 46, XX male sex reversal syndrome is one of the rarest sex chromosomal
aberrations. The presence of SRY gene on one of the X chromosomes is the most frequent …

Multiscale analysis of SRY‐positive 46, XX testicular disorder of sex development: presentation of nine cases

OS Akar, S Gunes, U Abur, E Altundag, R Asci… - Andrologia, 2020 - Wiley Online Library
Abstract 46, XX testicular disorder of sex development (46, XX TDSD) is a relatively rare
condition characterised by the presence of testicular tissue with 46, XX karyotype. The …