About 30–40% of male infertility is due to unknown reasons. Genetic contributions to the disruption of spermatogenesis are suggested and amongst the genetic factors studied, Y chromosome microdeletions represent the most common one. Screening for microdeletions in AZFa, b and c region of Y chromosome showed a big variation among different studies. The purpose of this study was to investigate th...

The Y chromosome carries several genes involved in spermatogenesis, which are distributed in three regions in the euchromatic part of the long arm, called AZFa (azoospermia factor a), AZFb, and AZFc. Microdeletions in these regions have been seen in 10-15% of sterile males with azoospermia or severe oligozoospermia. The relatively high de novo occurrence of these microdeletion events might be d...

Infertility is a major health problem today, affecting about 15.0% of couples trying to have a child. Impaired fertility of the male is causative in 20.0% of infertile couples and contributory in up to another 30.0-40.0%. Infertility already affects about 5.0-7.0% of the general male population and may further increase in the future, considering the apparent trend of declining sperm count in in...

About 30–40% of male infertility is due to unknown reasons. Genetic contributions to the disruption of spermatogenesis are suggested and amongst the genetic factors studied, Y chromosome microdeletions represent the most common one. Screening for microdeletions in AZFa, b and c region of Y chromosome showed a big variation among different studies. The purpose of this study was to investigate th...

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the <i>ZEB2</i> gene. Here, we report on an Egyptian patient diagnosed chromosomal microarray (CMA). A 1-year-old male child was referred to CHD clinic, Nati...

BACKGROUND Infertility is a health problem which affects about 10-20% of married couples. Male factor infertility is involved approximately 50% of infertile couples. Most of male infertility is regarding to deletions in the male-specific region of the Y chromosome. OBJECTIVE In this study, the occurrence of deletions in the AZF region and association between infertility and paternal age were ...

Background The androgen receptor (AR) gene contains a polymorphic trinucleotide repeat that encodes a polyglutamine tract in its N-terminal transactivation domain (NTAD). We aimed to find a correlation between the length of this polymorphic tract and azoospermia or oligozoospermia in infertile men living in Khuzestan, Iran. MaterialsAndMethods In this case-control study during two years till 20...

INTRODUCTION Although assisted reproduction techniques are used extensively in Iran, screening for Y chromosome microdeletions before intracytoplasmic sperm injection is often undervalued. Our aim was to investigate Y chromosome microdeletions in men with idiopathic azoospermia or severe oligospermia. MATERIALS AND METHODS In 99 selected patients with azoospermia or severe oligospermia and el...

AIM To establish the frequency of Y chromosome microdeletions in an unselected group of infertile Croatian men. METHODS An unselected group of 105 patients (male partners of infertile couples), both with idiopathic and non-idiopathic infertility, consecutively referred to the outpatient infertility clinic, gynecology department, General Hospital Pula, Istria County, Croatia, was examined for ...