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Hypogonadism — when does genetic diagnosis help in therapy?
Affiliations- Department of Endocrinology, Bielanski Hospital, Center of Postgraduate Medical Education, Warsaw, Poland
- Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland
open access
Abstract
Objectives: The objective of the study was to describe phenotype-genotype correlation in selected cases with infertility and emphasise the importance of genetic testing as useful tool for proper treatment decision making Material and methods: Genetic tests were performed in four patients as a part of diagnostic procedure by Sanger sequencing or targeted next generation sequencing (NGS gene panel). Results: We found the genetic causes of hypogonadotropic hypogonadism in 3 males and female with infertility. Conclusions: Genetic testing is carried out when searching for the genetic causes of clinically identified disorders. Genetic diagnostics may also be extremely helpful in treating hypogonadism but requires the assistance of a clinician endocrinologist or andrologist, as well as a geneticist.
Abstract
Objectives: The objective of the study was to describe phenotype-genotype correlation in selected cases with infertility and emphasise the importance of genetic testing as useful tool for proper treatment decision making Material and methods: Genetic tests were performed in four patients as a part of diagnostic procedure by Sanger sequencing or targeted next generation sequencing (NGS gene panel). Results: We found the genetic causes of hypogonadotropic hypogonadism in 3 males and female with infertility. Conclusions: Genetic testing is carried out when searching for the genetic causes of clinically identified disorders. Genetic diagnostics may also be extremely helpful in treating hypogonadism but requires the assistance of a clinician endocrinologist or andrologist, as well as a geneticist.
Keywords
hypogonadism; infertility; genetic testing
About this articleTitle
Hypogonadism — when does genetic diagnosis help in therapy?
Journal
Issue
Article type
Research paper
Pages
245-251
Published online
2023-10-18
Page views
345
Article views/downloads
178
DOI
Pubmed
Bibliographic record
Ginekol Pol 2024;95(4):245-251.
Keywords
hypogonadism
infertility
genetic testing
Authors
Katarzyna K. Jankowska
Anna Kutkowska-Kazmierczak
Agnieszka Magdalena Rygiel
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