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. 2013 Mar;30(3):413-22.
doi: 10.1007/s10815-013-9933-0. Epub 2013 Jan 24.

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

S Sen  1 , A R Pasi, R Dada, M B Shamsi, D Modi
Affiliations

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

S Sen et al. J Assist Reprod Genet. 2013 Mar.

Abstract

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 3.1 % of cases; additional non EAA markers that would contribute significantly to screening are sY746, sY82, sY121, sY128, sY130, sY143, sY145 & sY160.

Interpretations and conclusions: The frequency of Yq microdeletions is lower in Indian population as compared to Western counterparts. There is no major association of Yq microdeletions with seminal parameters or cause of infertility. Clinically it will be necessary to offer Yq microdeletion testing to all the classes of infertile men. The EAA markers may not be adequate to detect microdeletions in Indian infertile men.

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Figures

Fig. 1
Fig. 1
Geographic variations in frequency of Yq microdeletions in India. Numbers in bracket indicate the number of cases with deletions/total number of cases studied
Fig. 2
Fig. 2
Frequency of Yq microdeletion and its association with seminal parameters
Fig. 3
Fig. 3
Association of the deletions of various AZF loci with seminal parameters
Fig. 4
Fig. 4
Association of the frequency of microdeletions with numbers of STS markers
See this image and copyright information in PMC

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