We are analyzing https://link.springer.com/article/10.1007/s00439-020-02112-y.

Title:
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives | Human Genetics
Description:
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the ejaculate. Currently, ~ 20% of azoospermia cases remain idiopathic. Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. High genetic heterogeneity due to the complexity of spermatogenesis and testicular function, lack of non-consanguineous familial cases and confirmatory studies challenge the field. The reported monogenic defects cause syndromic NOA phenotypes presenting also additional congenital problems and isolated NOA cases, explained by spermatogenic defects. The established and recently reported NOA genes (n = 38) represent essential guardians of meiosis, transcriptional and endocrine regulators of reproduction. Despite the list being short, 92% of these loci are predicted to functionally interact with each other (STRING analysis: average 5.21 connections/gene, enrichment P < 10–16). Notably, ~ 50% of NOA genes have also been implicated in primary ovarian insufficiency, amenorrhea and female genital anomalies, referring to overlapping mechanisms. Considering the knowledge from respective female phenotypes and animal models, exploring the scenarios of di/oligogenic and de novo mutations represent perspective directions in the genetic research of NOA. Knowing the exact genetic cause in each patient improves the management of infertility and other health risks (e.g., cancer), and facilitates the counseling of family members about their reproductive health. Uncovering the loci and biological processes implicated in NOA will also broaden the understanding of etiologies behind spermatogenic failure and promote the development of novel non-invasive treatments for male infertility.
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Keywords {🔍}

pubmed, article, google, scholar, cas, central, genet, azoospermia, hum, mutations, infertility, male, gene, med, human, mutation, httpsdoiorgs, endocrinol, nonobstructive, genetic, development, reprod, biol, meiotic, nat, hypogonadism, cell, genetics, men, sex, mol, congenital, failure, genes, factor, dev, hypogonadotropic, sequencing, noa, spermatogenesis, cancer, disorders, rev, nra, sci, fertil, steril, httpsdoiorgjfertnstert, essential, kasak,

Topics {✒️}

month download article/chapter gonadotropin beta-subunit genes protein-protein association networks cystathionine-beta-synthase variants dna interstrand cross-links pirna-mediated retrotransposon silencing proteomics tissue-based map alpha-n-acetylglucosaminidase variants genome-wide experimental datasets cross-species resource compatible long-term gnrh therapy bi-allelic recessive loss primary gonadal failure full article pdf long-term outcomes x-linked tex11 mutations article kasak meiosis-specific recombinase dmc1 vertebrate-specific gene required duplicated lhb/cgb loci congenital hypogonadotropic hypogonadism–pathogenesis x-linked factor sex-specific gene expression male infertility access human brca2 protein privacy choices/manage cookies chromosome-linked kallmann syndrome androgen receptor roles inducing sperm defects achermann jc enyeart-vanhouten dl distinct genetic architectures human lutropin receptor follicle-stimulating hormone related subjects o'bryan mk o'sullivan mg hardelin jp testicular meiotic arrest testicular biopsy findings single-cell studies rajpert-de meyts rajpert‑de meyts male reproductive impairment perspectives review published singular dm domain male factor infertility single‑cell transcriptomics germ cell arrest exome sequencing reveals

Questions {❓}

Camats N, Fernandez-Cancio M, Audi L, Schaller A, Fluck CE (2018) Broad phenotypes in heterozygous NR5A1 46, XY patients with a disorder of sex development: an oligogenic origin?
Soraggi S, Riera M, Rajpert‑De Meyts E, Schierup MH, Almstrup K (2020) Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single‑cell transcriptomics of the human testis?
Vloeberghs V, Verheyen G, Haentjens P, Goossens A, Polyzos NP, Tournaye H (2015) How successful is TESE-ICSI in couples with non-obstructive azoospermia?

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      description:It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the ejaculate. Currently, ~ 20% of azoospermia cases remain idiopathic. Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. High genetic heterogeneity due to the complexity of spermatogenesis and testicular function, lack of non-consanguineous familial cases and confirmatory studies challenge the field. The reported monogenic defects cause syndromic NOA phenotypes presenting also additional congenital problems and isolated NOA cases, explained by spermatogenic defects. The established and recently reported NOA genes (n = 38) represent essential guardians of meiosis, transcriptional and endocrine regulators of reproduction. Despite the list being short, 92% of these loci are predicted to functionally interact with each other (STRING analysis: average 5.21 connections/gene, enrichment P < 10–16). Notably, ~ 50% of NOA genes have also been implicated in primary ovarian insufficiency, amenorrhea and female genital anomalies, referring to overlapping mechanisms. Considering the knowledge from respective female phenotypes and animal models, exploring the scenarios of di/oligogenic and de novo mutations represent perspective directions in the genetic research of NOA. Knowing the exact genetic cause in each patient improves the management of infertility and other health risks (e.g., cancer), and facilitates the counseling of family members about their reproductive health. Uncovering the loci and biological processes implicated in NOA will also broaden the understanding of etiologies behind spermatogenic failure and promote the development of novel non-invasive treatments for male infertility.
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