Recommendations on the diagnosis of male infertility — genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]

Jankowska, Katarzyna; Kutkowska-Kaźmierczak, Anna; Zgliczyński, Wojciech; Kochański, Andrzej; Słowikowska-Hilczer, Jolanta

doi:10.5603/ep.a2020.0081

Cited by 1 publication

(2 citation statements)

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“…Carrying out genetic testing in patients with endocrinopathies and infertility brings specific advantages. The guidelines of scientific societies recommend [6,7,12,13]: -carrying out a karyotype test for all men with infertility who have a sperm count of under 10 million sperm per mL; -additional diagnostics for azoospermia factor (AZF) and cystic fibrosis (CFTR) gene mutation in men with azoospermia.…”

Section: Discussionmentioning

confidence: 99%

“…Nowadays, genetic diagnostics in infertility is recommended by many scientific societies [1][2][3][4][5][6], but it is worth paying attention to the need for cooperation between doctors of various specialties (endocrinologist, geneticist, urologist), as well as educating doctors of various specialties in the field of reproductive health, so that they understand the need to perform specific genetic testing and genetic consultations for couples with infertility.…”

Section: Introductionmentioning

confidence: 99%

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Hypogonadism — when does genetic diagnosis help in therapy?

Jankowska,

Kutkowska-Kazmierczak,

Rygiel

2024

Ginekol Pol

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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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Section: Discussionmentioning

confidence: 99%