Hypogonadism - when does genetic diagnosis help in therapy?
Ginekol Pol
; 2023 Oct 23.
Article
em En
| MEDLINE
| ID: mdl-37861224
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Ginekol Pol
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Polônia