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- Title
Hypogonadism -- when does genetic diagnosis help in therapy?
- Authors
Jankowska, Katarzyna; Kutkowska-Kazmierczak, Anna; Rygiel, Agnieszka Magdalena
- 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.
- Subjects
HYPOGONADISM; GENETIC testing; MEDICAL decision making; GENOTYPES; PHENOTYPES
- Publication
Ginekologia Polska, 2024, Vol 95, Issue 4, p245
- ISSN
0017-0011
- Publication type
Article
- DOI
10.5603/gpl.97327