open access

Vol 71, No 6 (2020)
Review paper
Published online: 2020-12-29
Submitted: 2020-09-08
Accepted: 2020-10-15
Get Citation

Recommendations on the diagnosis of male infertility — genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]

Katarzyna Jankowska, Anna Kutkowska-Kaźmierczak, Wojciech Zgliczyński, Andrzej Kochański, Jolanta Słowikowska-Hilczer
DOI: 10.5603/EP.a2020.0081
·
Pubmed: 33378072
·
Endokrynologia Polska 2020;71(6):561-572.

open access

Vol 71, No 6 (2020)
REVIEWS — Postgraduate Education
Published online: 2020-12-29
Submitted: 2020-09-08
Accepted: 2020-10-15

Abstract

Male infertility is the cause of couples’ infertility in about 50% of cases. Current recommendations on the diagnosis and treatment of male infertility advance thorough medical history taking and physical examination, to provide the basis for further genetic evaluation.

The extent of genetic testing itself depends on the semen analysis results, which allow the risk of inheritance of chromosomal aberrations to be determined and the root causes of habitual miscarriages to be explained.
In azoospermia, once the type of microdeletion has been identified, a decision can be made as to whether a testicular biopsy is required to obtain sperm for the artificial reproductive technology (ART) procedure.

The physical examination, genetic interview, and hormonal results are helpful in deciding which genetic tests to perform.
Our research facilitates genetic testing in the diagnosis of male infertility.

Abstract

Male infertility is the cause of couples’ infertility in about 50% of cases. Current recommendations on the diagnosis and treatment of male infertility advance thorough medical history taking and physical examination, to provide the basis for further genetic evaluation.

The extent of genetic testing itself depends on the semen analysis results, which allow the risk of inheritance of chromosomal aberrations to be determined and the root causes of habitual miscarriages to be explained.
In azoospermia, once the type of microdeletion has been identified, a decision can be made as to whether a testicular biopsy is required to obtain sperm for the artificial reproductive technology (ART) procedure.

The physical examination, genetic interview, and hormonal results are helpful in deciding which genetic tests to perform.
Our research facilitates genetic testing in the diagnosis of male infertility.

Get Citation

Keywords

male infertility; genetic counselling; genetic recommendations; semen analysis

About this article
Title

Recommendations on the diagnosis of male infertility — genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]

Journal

Endokrynologia Polska

Issue

Vol 71, No 6 (2020)

Article type

Review paper

Pages

561-572

Published online

2020-12-29

DOI

10.5603/EP.a2020.0081

Pubmed

33378072

Bibliographic record

Endokrynologia Polska 2020;71(6):561-572.

Keywords

male infertility
genetic counselling
genetic recommendations
semen analysis

Authors

Katarzyna Jankowska
Anna Kutkowska-Kaźmierczak
Wojciech Zgliczyński
Andrzej Kochański
Jolanta Słowikowska-Hilczer

References (20)
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