The human Y chromosome harbors genes that are responsible for testis development and also for initiation and maintenance of spermatogenesis in adulthood. The long arm of the Y chromosome (Yq) contains many ampliconic and palindromic sequences making it predisposed to self-recombination during spermatogenesis and hence susceptible to intra-chromosomal deletions. Such deletions lead to copy numbe...

Surgical testicular sperm retrieval for intra-cytoplasmic sperm injection (ICSI) purposes is the only possibility of biological fathering in case of non-obstructive azoospermia (NOA). Successful retrieval only correlates with histology, not with FSH values or testicular volume. Concurrent AZFa and AZFb microdeletion predict unsuccessful recovery. Testicular sperm extraction (TESE) (mean of succ...

After the Klinefelter syndrome, Y chromosomal microdeletions are the second most frequent genetic cause of male infertility. The European Academy Andrology (EAA) and the European Molecular genetics Quality Network (EMQN) revised the new 2014 laboratory guidelines on Sep 2013 based on 1999 and 2004 editions according to 12 years clinical accumulation and specialist consensus. The new guideline e...

BACKGROUND Genome-wide repeat sequences, such as LINEs, SINEs and LTRs share a considerable part of the mammalian nuclear genomes. These repeat elements seem to be important for multiple functions including the regulation of transcription initiation, alternative splicing and DNA methylation. But it is not possible to study all repeats and, hence, it would help to short-list before exploring the...

Background: The Y chromosome microdeletion is one of the best-documented causes of male infertility but the factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. In view of this, the objective of the present study was to explore...

1st century A.D.: Celsius reported that swollen veins over the testis associated are with small testis. Mid-19th century: Inflammation of male and female reproductive organs was treated with ointments, douches and massages. 1881: Dr. Levy a German gynecologist performed a post coital test for an infertile couple and determined that the husband was sterile (no sperm on microscopic exam). Late 19...

Infertility is defined as a failure to conceive in a couple trying to reproduce for a period of two years without conception. Approximately 15 percent of couples are infertile, and among these couples, male factor infertility accounts for approximately 50 percent of causes. Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. In more than half of infertile men...

OBJECTIVE The most frequent known genetic causes of severe oligospermia (< 5 million sperm/ml) or azoospermia in men are Klinefelter's syndrome (KS), and deletions in the Y chromosome long arm (Yq). We aimed to compare the function of the pituitary-testicular axis in patients with severe oligospermia or azoospermia, idiopathic or associated with Y chromosome deletions or Klinefelter's syndrome ...