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X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
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X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
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Journal Article
X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
2015
Overview
Some genetic causes of male infertility have been identified, but most remain unknown. In this study, 7 of 289 men with azoospermia (2.4%) harbored a mutation in
TEX11,
a gene expressed in the testes that is critical to chromosomal recombination.
Nearly half of all cases of male infertility are thought to be associated with genetic defects.
1
–
3
Up to 20% of infertile men receive a diagnosis of azoospermia.
3
Nonobstructive azoospermia is spermatogenic failure that is defined by the absence of spermatozoa in the seminal fluid.
1
,
4
Azoospermia is a heterogeneous condition with several histologic phenotypes.
5
The most severe form of azoospermia is the Sertoli-cell–only syndrome, which is defined as a complete absence of germ cells.
6
,
7
Azoospermia with meiotic arrest is a milder form of infertility with a cessation at the spermatocyte stage of germ-cell formation.
7
Both the Sertoli-cell–only syndrome . . .
Publisher
Massachusetts Medical Society
Subject
/ Chromosomal Proteins, Non-Histone - deficiency
/ Chromosomal Proteins, Non-Histone - genetics
/ Chromosomal Proteins, Non-Histone - metabolism
/ DNA
/ Exons
/ Humans
/ Infertility, Male - genetics
/ Macaca
/ Male
/ Meiosis
/ Men
/ Mice
/ Mutation
/ Oligonucleotide Array Sequence Analysis
/ Semen
/ Sperm
/ Splicing
/ Testes
