The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994–2010)

Kleiman, Sandra E.; Yogev, Leah; Lehavi, Ofer; Hauser, Ron; Botchan, Amnon; Paz, Gedalia; Yavetz, Haim; Gamzu, Ronni

doi:10.1016/j.fertnstert.2011.01.162

Cited by 51 publications

(58 citation statements)

References 53 publications

(55 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Despite this, all three cases were unsuccessful with no sperm being retrieved and a pathological diagnosis of maturation arrest. The current literature, including the guidelines, suggest that men with complete AZFb microdeletion are associated with a poor prognosis and recommend that these men should not be offered a mTESE [1,2,16,17]. However, to date, there have been 10 men with oligozoospermia in the literature with a non-classical or partial deletion of the AZFb region [18][19][20][21][22][23].…”

Section: Discussionmentioning

confidence: 99%

An analysis of the frequency of Y‐chromosome microdeletions and the determination of a threshold sperm concentration for genetic testing in infertile men

et al. 2018

View full text Add to dashboard Cite

The prevalence of Y-chromosome microdeletions in infertile men appears to vary between populations and countries. A low sperm concentration was a predictive factor (P < 0.05) for identifying microdeletions in infertile males. A threshold for genetic testing of 0.5 million/mL would increase the specificity and lower the relative cost without adversely affecting the sensitivity. The rate of SSR was lower than that previously described in the literature.

show abstract

Section: Discussionmentioning

confidence: 99%

An analysis of the frequency of Y‐chromosome microdeletions and the determination of a threshold sperm concentration for genetic testing in infertile men

et al. 2018

View full text Add to dashboard Cite

show abstract

“…To confirm further candidate regions (including XKRY, CDY2B, or LOCAD1629 genes) responsible for spermatogenesis conservation-namely, by use of long-range PCR assays to bridge the patients' individual AZF breakpoints for a better characterization of the novel AZF fusion region-more studies and retrospective analysis such as the recent one by Kleiman et al (33) need to be performed.…”

Section: Discussionmentioning

confidence: 99%

AZFb microdeletions and oligozoospermia—which mechanisms?

Soares

Costa

Silva

et al. 2012

Fertility and Sterility

View full text Add to dashboard Cite

“…5,[8][9][10] This observation suggests that one or more genes within or surrounding AZFb may be critical for germ cell maturation, and that perturbation of expression of genes within AZFb or their function may underlie some cases of otherwise unexplained NOA associated with MA. However, despite our relatively advanced understanding of the genetic mechanisms and clinical sequelae of Y microdeletions, we still do not know which AZFb genes are essential for sperm production.…”

Section: Introductionmentioning

confidence: 99%

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

Stahl¹,

Mielnik²,

Barbieri³

et al. 2012

Asian J Androl

View full text Add to dashboard Cite

Maturation arrest (MA) refers to failure of germ cell development leading to clinical nonobstructive azoospermia. Although the azoospermic factor (AZF) region of the human Y chromosome is clearly implicated in some cases, thus far very little is known about which individual Y-chromosome genes are important for complete male germ cell development. We sought to identify single genes on the Y chromosome that may be implicated in the pathogenesis of nonobstructive azoospermia associated with MA in the American population. Genotype-phenotype analysis of 132 men with Y-chromosome microdeletions was performed. Protein-coding genes associated with MA were identified by visual analysis of a genotype-phenotype map. Genes associated with MA were selected as those genes within a segment of the Y chromosome that, when completely or partially deleted, were always associated with MA and absence of retrievable testicular sperm. Expression of each identified gene transcript was then measured with quantitative RT-PCR in testicular tissue from separate cohorts of patients with idiopathic MA and obstructive azoospermia. Ten candidate genes for association with MA were identified within an 8.4-Mb segment of the Y chromosome overlapping the AZFb region. CDY2 and HSFY were the only identified genes for which differences in expression were observed between the MA and obstructive azoospermia cohorts. Men with obstructive azoospermia had 12-fold higher relative expression of CDY2 transcript (1.3360.40 vs. 0.1160.04; P50.0003) and 16-fold higher expression of HSFY transcript (0.7860.32 vs. 0.0560.02; P50.0005) compared to men with MA. CDY2 and HSFY were also underexpressed in patients with Sertoli cell only syndrome. These data indicate that CDY2 and HSFY are located within a segment of the Y chromosome that is important for sperm maturation, and are underexpressed in testicular tissue derived from men with MA. These observations suggest that impairments in CDY2 or HSFY expression could be implicated in the pathogenesis of MA.

show abstract

The likelihood of finding mature sperm cells in men with AZFb or AZFb-c deletions: six new cases and a review of the literature (1994–2010)

Cited by 51 publications

References 53 publications

An analysis of the frequency of Y‐chromosome microdeletions and the determination of a threshold sperm concentration for genetic testing in infertile men

An analysis of the frequency of Y‐chromosome microdeletions and the determination of a threshold sperm concentration for genetic testing in infertile men

AZFb microdeletions and oligozoospermia—which mechanisms?

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

Contact Info

Product

Resources

About