Spermatogenic Failure 1

Description

Spermatogenic arrest during meiosis is a cause of infertility. The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable from normal spermatocytes by their partially condensed chromosomes. Although the cause of infertility in patients with meiotic arrest often remains unidentified, this histologic picture can be observed in patients with nonidiopathic infertility as well, such as in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and cryptorchidism, suggesting that different causal factors can result in the same effect. There is evidence that spermatogenic failure-1 (SPGF1) is caused by heterozygous mutation in the SYCP2 gene on chromosome 20q13. [From OMIM]

Spermatogenic Failure is a genetically heterogenous disorder. This disease record on CTGA  also contains information on forms of this condition associated with novel genes. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
258150.1Saudi ArabiaMale Non-obstructive azoospermiaNM_014258.4:c.866A>CHomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.2Saudi ArabiaMale Non-obstructive azoospermiaNM_005751.5:c.5251C>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.3Saudi ArabiaMale Non-obstructive azoospermiaNM_130768.3:c.614G>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.4Saudi ArabiaMale Non-obstructive azoospermiaNM_020879.3:c.748C>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.5Saudi ArabiaMale Non-obstructive azoospermiaNM_014984.4:c.13C>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.6Saudi ArabiaMale Non-obstructive azoospermiaNM_001351.4:c.571-1G>CHomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.7Saudi ArabiaMale Non-obstructive azoospermiaNM_013264.5:c.275C>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.8Saudi ArabiaMale Non-obstructive azoospermiaNM_014800.11:c.620C>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.9Saudi ArabiaMale Non-obstructive azoospermiaNM_001437.3:c.602G>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.10Saudi ArabiaMale Non-obstructive azoospermiaNM_144685.5:c.935C>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.12Saudi ArabiaMale Non-obstructive azoospermiaNM_138703.5:c.1484G>AHemizygousAutosomal, RecessiveAlhathal et al. 2020
258150.13Saudi ArabiaMale Non-obstructive azoospermiaNM_138703.5:c.700C>THemizygousAutosomal, RecessiveAlhathal et al. 2020
258150.14Saudi ArabiaMale Non-obstructive azoospermiaNM_007351.3:c.3454G>AHomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.16Saudi ArabiaMale Non-obstructive azoospermiaNM_138733.5:c.1112T>CHomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.17Saudi ArabiaMale Non-obstructive azoospermiaNM_018068.5:c.745C>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.18Saudi ArabiaMale Non-obstructive azoospermiaNM_018068.5:c.727_729delHomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.19Saudi ArabiaMale Non-obstructive azoospermiaNM_001378902.1:c.4982C>THomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.20Saudi ArabiaMale Non-obstructive azoospermiaNM_139073.5:c.373C>AHomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.21Saudi ArabiaMale Non-obstructive azoospermiaNM_001394401.1:c.880-2A>GHomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.22Saudi ArabiaMale Non-obstructive azoospermiaNM_018138.5:c.1449delHomozygousAutosomal, RecessiveAlhathal et al. 2020
258150.23Saudi ArabiaMale Non-obstructive azoospermiaNM_001008409.5:c.749-1G>CHomozygousAutosomal, RecessiveAlhathal et al. 2020
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