Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consis...

Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosoma...

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping, and ...

Received: 22 December 2014 Revised: 26 April 2015 Accepted: 12 May 2015 Abstract 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 delet...

PURPOSE To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. MATERIALS AND METHODS Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine....

OBJECTIVE Aproximately 10% of patients with non-obstructive azoospermia and 5% with non-obstructive severe oligozoospermia carry AZF region microdeletions (AZoospermic Factor) in the Y chromosome. The aim of this study is to analize the clinical and pathological findings in this group of patients and compare them with the previous evidence. MATERIAL AND METHODS Retrospective study of 11 patie...

Objective: Microdeletions of azoospermia factor (AZF) regions in Y chromosome were a genetic risk factor of spermatogenic failure and male infertility. Most laboratories carried out the AZF microdeletion testing by using peripheral intravenous blood, and AZF microdeletion in spermatozoa of infertile patients was sometimes not identical to that of peripheral intravenous blood due to the existenc...

BACKGROUND & OBJECTIVES Genetic factors contribute about 10 per cent of male infertility. Among these, genes in azoospermia factor (AZF) region including AZFa, AZFb, AZFc and AZFd on the long arm of Y chromosome are considered most important for spermatogenesis. Deletions in these regions are thought to be involved in some cases of male infertility associated with azoospermia or oligozoospermia...

Male infertility is often described in terms of role played by Y chromosome and Yq microdeletions. But studies have shown that X chromosome, being enriched for testis specific genes plays a significant role in formation of mature spermatozoa. The couple under study had undergone treatments for infertility including 7 Intrauterine inseminations (IUI) and 6 Invitro Fertilization (IVF) cycles but ...