[HTML][HTML] Microdissection testicular sperm extraction

R Flannigan, PV Bach, PN Schlegel - Translational Andrology and …, 2017 - ncbi.nlm.nih.gov
Microdissection testicular sperm extraction (microTESE) is considered the gold standard
method for surgical sperm retrieval among patients with non-obstructive azoospermia …

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 …

Genetic diagnostics of male infertility in clinical practice

R Flannigan, PN Schlegel - Best Practice & Research Clinical Obstetrics & …, 2017 - Elsevier
Highlights•Identifiable genetic abnormalities contribute to 15%–20% of the most severe
forms of male infertility, azoospermia.•Klinefelter syndrome, XXY, is the most common X …

Genetic defects in human azoospermia

F Ghieh, V Mitchell, B Mandon-Pepin… - Basic and clinical …, 2019 - Springer
As with many other diseases, genetic testing in human azoospermia was initially restricted to
karyotype analyses (leading to diagnostic chromosome rearrangement tests for Klinefelter …

[HTML][HTML] 47, XYY syndrome and male infertility

IW Kim, AC Khadilkar, EY Ko… - Reviews in …, 2013 - ncbi.nlm.nih.gov
Men with 47, XYY syndrome present with varying physical attributes and degrees of
infertility. A retrospective chart review was performed on a male infertility and genetic …

Recent advances in the genetics of testicular failure

SH Song, K Chiba, R Ramasamy… - Asian journal of …, 2016 - journals.lww.com
Infertility affects approximately 15% of couples, and male factor is responsible for 30%–50%
of all infertility. The most severe form of male infertility is testicular failure, and the typical …

Contemporary genetics-based diagnostics of male infertility

A Ferlin, S Dipresa, A Delbarba… - Expert review of …, 2019 - Taylor & Francis
Introduction Thousands of genes are implicated in spermatogenesis, testicular development
and endocrine regulation of testicular function. The genetic contribution to male infertility is …

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

P Borjian Boroujeni, M Sabbaghian… - Human …, 2019 - Taylor & Francis
Abstract 47, XYY syndrome is a sex chromosomal anomaly in men, which may be
associated with infertility and has an incidence of 0.1% of male births. The clinical and …

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 …

Testicular function in boys with 47, XYY and relationship to phenotype

SM Davis, L Bloy, TPL Roberts, K Kowal… - American Journal of …, 2020 - Wiley Online Library
An additional Y chromosome occurs in~ 1 in 1,000 males, resulting in the karyotype 47,
XYY. The phenotype includes tall stature, hypotonia, neuropsychiatric comorbidities, and an …