Y choromosomal microdeletion screening in the workup of male infertility and its current status in India

Ramaswamy Suganthi, Vijayabhavanath Vijayakumaran Vijesh, Nambiar Vandana, Jahangir Fathima Ali Benazir, Ramaswamy Suganthi, Vijayabhavanath Vijayakumaran Vijesh, Nambiar Vandana, Jahangir Fathima Ali Benazir

Abstract

Spermatogenesis is an essential stage in human male gamete development, which is regulated by many Y chromosome specific genes. Most of these genes are centred in a specific region located on the long arm of the human Y chromosome known as the azoospermia factor region (AZF). Deletion events are common in Y chromosome because of its peculiar structural organization. Astonishingly, among the several known genetic causes of male infertility, Y chromosomal microdeletions emerged as the most frequent structural chromosome anomaly associated with the quantitative reduction of sperm. The development of assisted reproductive techniques (ART) like intra-cytoplasmic sperm injection (ICSI) and testicular sperm extraction (TESE) helps to bypass the natural barriers of fertilization, but it increases the concern about the transmission of genetic defects. Experimental evidence suggested that the men with Y chromosomal microdeletions vertically transmitted their deletion as well as related fertility disorders to their offspring via these ART techniques. In India, infertility is on alarming rise. ART centres have opened up in virtually every state but still most of the infertility centres in India do not choose to perform Y chromosomal microdeletion diagnosis because of some advanced theoretical reasons. Moreover, there is no consensus among the clinicians about the diagnosis and management of Y chromosomal microdeletion defects. The current review discusses thoroughly the role of Y chromosome microdeletion screening in the workup of male infertility, its significance as a diagnostic test, novel approaches for screening Y deletions and finally a systematic review on the current status of Y chromosome microdeletion deletion screening in India.

Keywords: Intracytoplasmic Sperm Injection; Male Infertility; Sequence-Tagged Site; Y Chromosome Microdeletions.

Figures

Fig 1
Fig 1
Diagram of the human Y chromosome showing AZF deletions. A. Schematic representation of the structure of human Y chromosome showing pseudoautosomal region (PAR1, PAR2) , centromere and male-specific region of the Y chromosome (MSY) with eight palindromes (P1-P8), heterochromatic sequences and three classes of euchromatic sequences: X-transposed, X-degenerate and ampliconic. B. Schematic map of common AZF deletions with corresponding candidate genes. C. STS markers associated with AZFa, b and c regions respectively, used for routine screening analyses of Y chromosomal microdeletions globally (*; Multiple copy).

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