Katarzyna K Jankowska, Anna Kutkowska-Kazmierczak, Agnieszka Magdalena Rygiel
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Hypogonadism - when does genetic diagnosis help in therapy?
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.
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