Genetics and male infertility

Review Andrology

Reciprocal translocation and Robertsonian translocation in relation to semen parameters: A retrospective study and systematic review

Xiaochuan Chen et al.

Summary: The study found that sperm concentration, total motility, progressive motility, and normal morphology were significantly lower in carriers of autosomal reciprocal translocation and Robertsonian translocation compared to controls.

ANDROLOGIA (2022)

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Review Obstetrics & Gynecology

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships

Brendan J. Houston et al.

Summary: Research has shown a significant genetic component in male infertility, particularly monogenic causes. The field had been slow in adopting next-generation sequencing technologies and lacked clear statements on validated causes of human male infertility. Through clinical validity assessment, 120 genes were identified to be moderately, strongly or definitively linked to 104 infertility phenotypes.

HUMAN REPRODUCTION UPDATE (2022)

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Review Genetics & Heredity

The genetic architecture of morphological abnormalities of the sperm tail

Aminata Toure et al.

Summary: Spermatozoa require a specialized structure like the flagellum for successful fertilization. Defects in the flagellum, such as MMAF, can lead to male infertility by affecting sperm motility, and recent studies have identified genetic factors contributing to this condition.

HUMAN GENETICS (2021)

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Review Genetics & Heredity

Genetics of the congenital absence of the vas deferens

Eric Bieth et al.

Summary: Congenital absence of the vas deferens (CAVD) has various clinical presentations, with most cases carrying cystic fibrosis-causing mutations and some cases potentially having X-linked hereditary forms. The pathophysiological mechanisms underlying this condition require further investigation.

HUMAN GENETICS (2021)

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Review Genetics & Heredity

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice

Henriett Butz et al.

Summary: Congenital hypogonadotropic hypogonadism (CHH) is a genetically heterogeneous congenital disease with over 40 identified pathogenic genes. High-throughput next-generation sequencing (NGS) allows for efficient analysis, but interpretation of genetic data remains challenging due to the complex genetics of CHH.

HUMAN GENETICS (2021)

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Review Genetics & Heredity

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

Biagio Cangiano et al.

Summary: While a genetic basis for congenital isolated hypogonadotropic hypogonadism (CHH) has been identified in approximately 50% of cases, further research is needed to fully understand the genetic underpinnings of the condition. Advances in genetics have not yet translated into novel therapies for patients, and the relationships between different genes involved in CHH are complex and varied.

HUMAN GENETICS (2021)

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Article Obstetrics & Gynecology

Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients

S. Rudnik-Schoeneborn et al.

Summary: CFTR mutation analysis should be recommended in all men with unexplained azoospermia in the presence of normal gonadotropin levels, as it has a broader indication than just the absence of the vas deferens.

HUMAN REPRODUCTION (2021)

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Article Obstetrics & Gynecology

Poor intracytoplasmic sperm injection outcome in infertile males with azoospermia factor c microdeletions

Li Zhang et al.

Summary: The presence of AZFc microdeletions resulted in poorer outcomes in intracytoplasmic sperm injection (ICSI), with lower pregnancy and live birth rates compared to control groups. Patients with these deletions should be aware of their reduced chances of biological fatherhood.

FERTILITY AND STERILITY (2021)

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Review Critical Care Medicine