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.