Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions

Cram, David S.; Knepper, M. A.; Bhasin, Shalender; Ariasc, Jose; Pandjaitanc, Marintan; Chu, Brendan; Audrins, M.S.bPam; Dm, Saunders; Quinn, Frank A.; DeKretser, David; McLachlan, Robert I

doi:10.1016/s0015-0282(00)01568-5

Cited by 120 publications

(59 citation statements)

References 30 publications

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“…Also, oligozoospermic men with microdeletions have been reported to progress to azoopsermia over time [1,9,13], higher incidence of poor quality embryos has been observed in couples where the male partner has microdeletions [35]. In addition, it is important to note that infertile men carrying Yq microdeletions always pass on the defect to their male offsprings born after Intracytoplasmic Sperm Injections (ICSI) thereby perpetuating infertility in the next generationa [7]. Thus, Yq microdeletion testing is highly recommended for all the infertile men who opt for ICSI for biological parenthood [31].…”

Section: Introductionmentioning

confidence: 99%

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Sen

Pasi

Dada

et al. 2013

J Assist Reprod Genet

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Purpose Yq microdeletions are the leading genetic cause of male infertility and its detection is clinically relevant for appropriate genetic counseling. We aimed to determine the prevalence and type of Yq microdeletions, the associated seminal phenotypes and the STS markers that are relevant for its testing in Indian population. Methods Yq microdeletion analysis was carried out in 1,636 infertile cases in our centers. Additional data was collected from published studies in Indian population leading to a total of 3,647 cases. Results In our cohort, 3.4 % (56/1,636) of infertile men had Yq microdeletions. Combining the data from other published studies identified 215/3,647 (5.8 %) infertile individuals to harbor Yq microdeletions; with 6.4 % in azoopsermia, 5.8 % in oligozoospermia and 3.2 % in oligoasthenozoospermia and teratozoospermia cases. No significant differences in the deletion frequencies were observed between idiopathic vs non idiopathic cases (5.8 vs 8.6 % respectively). Deletions of AZFc were at highest frequency (46.6 %) with double deletions most commonly observed in azoospermic subjects. With respect to the STS markers, screening with the six European Academy of Andrology (EAA) markers would miss 3

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Section: Introductionmentioning

confidence: 99%

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Sen

Pasi

Dada

et al. 2013

J Assist Reprod Genet

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“…The phenomenon of vertical transmission was observed in family 2, where the father who carried a microdeletion in AZFa, transmitted it to his son through ICSI, a process of assisted reproduction (Chang et al, 1999;Cram et al, 2000;Lee et al, 2006). This finding rein-forces the necessity of an investigation of microdeletions in the Y chromosome in individuals who are candidates for assisted reproduction, as well as genetic counseling and follow-up.…”

Section: Discussionmentioning

confidence: 95%

“…This therapy can also cause expansion of the de novo mutation, as observed by Cram et al (2000). This use of ICSI increases the probability of an abnormal sperm to be selected for fertilization, and consequently, anomalies at different levels of paternal genomic organization can affect reproductive potential and the results of techniques of assisted reproduction.…”

Section: Discussionmentioning

confidence: 99%

Tracking microdeletions of the AZF region in a patrilineal line of infertile men

Rodovalho¹,

Arruda²,

Moura³

2008

Genet. Mol. Res.

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ABSTRACT. Male infertility is considered to be a difficult-to-treat condition because it is not a single entity, but rather reflects a variety of different pathologic conditions, thus making it difficult to use a single treatment strategy. Structural alterations in the Y chromosome have been the principal factor responsible for male infertility. We examined 26 family members of 13 patients with male infertility who showed deletions in the AZF region. In family 1, the father and a brother did not show microdeletions. However, a son showed a microdeletion in AZFa (sY84) and an azoospermic sperm analysis, but another son had a microdeletion in AZFa (sY84) and AZFb (sY127) and a normal sperm analysis. The father of family 2, with severe oligozoospermia, had a microdeletion in the AZFa region (sY84) and his son, conceived by intracytoplasmic sperm injection, also showed the same microdeletion. In the other families, only the men with an altered sperm analysis had a microdeletion. It is possible that in family 1, the father and brother who did not show microdeletions in this study, could have microdeletions in regions upstream or downstream of the one analyzed. The treatment with intracytoplasmic sperm injection can result in vertical transmission of microdeletions of the AZF region and can also cause the expansion of a de novo mutation. This finding reinforces the necessity of an

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“…Microdeletions involving the Azoospermia Factor loci (AZF) on the long arm of the Y chromosome (Yq) are a genetic cause of male infertility and the deletions of the AZFa, AZFb or AZFc loci alone or in combination occur in 2-10 % of men with abnormal seminogram [2][3][4][5][6]. Since Yq microdeletions can be vertically transmitted to the male offspring born after assisted reproduction [7,8], screening for these microdeletions has become a part of the routine diagnostic workup for men with azoospermia or oligozoospermia [5].…”

Section: Introductionmentioning

confidence: 99%

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions

Sen

Ambulkar

Hinduja

et al. 2015

J Assist Reprod Genet

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Purpose The purpose of this study was to determine the association of AZFc subdeletions (gr/gr, b1/b3 and b2/b3) and deletion of DAZ and CDY1 gene copies with male infertility Methods Three hundred twelve controls, 172 azoospermic and 343 oligozoospermic subjects were subjected to AZFc subdeletion typing by STS PCR. Deletion of DAZ and CDY1 gene copies was done using sequence family variant analysis. Sperm concentration and motility were compared between men with and without AZFc subdeletions. Effect of the AZFc subdeletions on ICSI outcome was evaluated. Results Amongst the three AZFc subdeletions, the frequency of gr/gr was higher in oligozoospermic (10.5 %) and azoospermic (11.6 %) men as compared to controls (5.1 %). In men with AZFc subdeltions, loss of two DAZ and one CDY1 gene copy made them highly susceptible to azoospermia and severe oligozoospermia with OR of 29.7 and 26, respectively. These subdeletions had no effect on ICSI outcome, albeit there were an increased number of poor quality embryos in AZFc subdeleted group. Conclusion AZFc subdeletions are a major risk factor for male infertility in the Indian population. In the subjects with AZFc subdeletions, the deletion of DAZ and CDY1 gene copies increases its susceptibility to azoospermia or severe oligozoospermia. Since these deletions can be vertically transmitted to the future male offspring by ICSI, it will be essential to counsel the couples for the transmission of the genetic defect in the male offspring born after assisted reproduction and the risk of perpetuating infertility in future generation.

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Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions

Cited by 120 publications

References 30 publications

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Tracking microdeletions of the AZF region in a patrilineal line of infertile men

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions

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