Department of Endocrinology, Bielanski Hospital, Center of Postgraduate Medical Education, Warsaw, Poland.
Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.
Ginekol Pol. 2024;95(4):245-251. doi: 10.5603/gpl.97327. Epub 2023 Oct 20.
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).
We found the genetic causes of hypogonadotropic hypogonadism in 3 males and female with infertility.
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.
本研究的目的是描述不孕不育患者中选择病例的表型-基因型相关性，并强调遗传检测作为制定正确治疗决策的有用工具的重要性。
通过 Sanger 测序或靶向下一代测序（NGS 基因panel），对 4 名患者进行了遗传检测，作为诊断程序的一部分。
我们在 3 名男性和 1 名女性不孕患者中找到了促性腺激素低下性性腺功能减退症的遗传原因。
当寻找临床诊断疾病的遗传原因时，会进行遗传检测。遗传诊断对于治疗性腺功能减退症也非常有帮助，但需要临床内分泌学家或男科医生以及遗传学家的协助。
