Vol 95, No 4 (2024)
Research paper
Published online: 2023-10-18

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Hypogonadism — when does genetic diagnosis help in therapy?

Katarzyna K. Jankowska1, Anna Kutkowska-Kazmierczak2, Agnieszka Magdalena Rygiel2
Pubmed: 37861224
Ginekol Pol 2024;95(4):245-251.


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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