Abstract

PURPOSE OF REVIEW
The purpose of this review is to provide a contemporary overview of the genetic evaluation of azoospermic or severely oligozoospermic men.
RECENT FINDINGS
Genetic tests should be selected based upon the initial clinical evaluation. Patients with vasal agenesis or unexplained obstructive azoospermia and low semen volume should be tested for abnormalities of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Cytogenetic testing (karyotype) and Y chromosome microdeletion (YCMD) screening are indicated in all cases when severely impaired sperm production due to testicular failure is suspected. Mutational screening of commonly implicated genes should be considered when congenital hypogonadotropic hypogonadism is clinically apparent.
SUMMARY
A clinically directed genetic evaluation is indicated in all azoospermic and severely oligozoospermic men. Such genetic testing is informative about the cause of infertility, the prognosis for biological paternity using assisted reproduction, and the risks of genetic abnormalities and disease in offspring. Future genetic testing may reveal a predisposition for medical conditions beyond infertility that warrant clinical management.

Links

Publisher Full Text

Authors

Stahl PJ, Schlegel PN

Institution

Weill Cornell Medical College, New York, USA.

Source

Current opinion in obstetrics & gynecology 24:4 2012 Aug pg 221-8

MeSH

Adult
Azoospermia
Chromosome Deletion
Chromosomes, Human, Y
Cystic Fibrosis Transmembrane Conductance Regulator
Gene Deletion
Genetic Counseling
Genetic Predisposition to Disease
Genetic Testing
Humans
Infertility, Male
Karyotyping
Male
Mutation
Oligospermia
RNA-Binding Proteins
Risk Factors
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

22729088