Spermatogenic Failure 1; Spgf1

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 (summary by Luetjens et al., 2004). Phenotypic and Genetic Heterogeneity of Spermatogenic FailureSeveral forms of autosomal spermatogenic failure have been reported. SPGF1 represents an autosomal recessive form of spermatogenic failure associated with defects in meiosis. SPGF2 (OMIM ) represents a form of spermatogenic failure associated with rearrangements on chromosome 1. Another form of spermatogenic failure (SPGF3 ), associated with asthenozoospermia, is caused by mutation in the SLC26A8 gene (OMIM ) on chromosome 6p21. A form of azoospermia due to perturbations of meiosis (SPGF4 ) is caused by mutation in the SYCP3 gene (OMIM ) on chromosome 12q23. Male infertility due to large-headed, multiflagellar, polyploid sperm (SPGF5 ) is caused by mutation in the AURKC gene (OMIM ) on chromosome 19q13. Acrosome malformation resulting in globozoospermia (SPGF6 ) can be caused by mutation in the SPATA16 gene (OMIM ) on chromosome 3q26. Spermatogenic failure-7 (SPGF7 ) is caused by mutation in the CATSPER gene (OMIM ) on chromosome 11q13. Spermatogenic failure-8 (SPGF8 ) is caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33. Another form of globozoospermia (SPGF9 ) is caused by mutation in the DPY19L2 gene (OMIM ) on chromosome 12q14. A form of spermatogenic failure with defective sperm annulus (SPGF10 ) is caused by mutation in the SEPT12 gene (OMIM ) on chromosome 16p13. Spermatogenic failure-11 (SPGF11 ) is caused by mutation in the KLHL10 gene (OMIM ) on chromosome 17p21. Spermatogenic failure-12 (SPGF12 ) is caused by mutation in the NANOS1 gene (OMIM ) on chromosome 10q26. SPGF13 (OMIM ) is caused by mutation in the TAF4B gene (OMIM ) on chromosome 18q11. SPGF14 (OMIM ) is caused by mutation in the ZMYND15 gene (OMIM ) on chromosome 17p13. SPGF15 (OMIM ) is caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26. A form of spermatogenic failure due to acephalic spermatozoa (SPGF16 ) is caused by mutation in the SUN5 gene (OMIM ) on chromosome 20q11. SPGF17 (OMIM ) is caused by mutation in the PLCZ1 gene (OMIM ) on chromosome 12p12. SPGF18 (OMIM ) is caused by mutation in the DNAH1 gene (OMIM ) on chromosome 3p21. SPGF19 (OMIM ) is caused by mutation in the CFAP43 gene (OMIM ) on chromosome 10q25. SPGF20 (OMIM ) is caused by mutation in the CFAP44 gene (OMIM ) on chromosome 3q13. SPGF21 (OMIM ) is caused by mutation in the BRDT gene (OMIM ) on chromosome 1p22. SPGF22 (OMIM ) is caused by mutation in the MEIOB gene (OMIM ) on chromosome 16p13. SPGF23 (OMIM ) is caused by mutation in the TEX14 gene (OMIM ) on chromosome 17q22. SPGF24 (OMIM ) is caused by mutation in the CFAP69 gene (OMIM ) on chromosome 7q21. SPGF25 (OMIM ) is caused by mutation in the TEX15 gene (OMIM ) on chromosome 8p12. SPGF26 (OMIM ), characterized by acephalic spermatozoa, is caused by mutation in the TSGA10 gene (OMIM ) on chromosome 2q11. SPGF27 (OMIM ) is caused by mutation in the AK7 gene (OMIM ) on chromosome 14q32. SPGF28 (OMIM ) is caused by mutation in the FANCM gene (OMIM ) on chromosome 14q21. SPGF29 (OMIM ) is caused by mutation in the SPINK2 gene (OMIM ) on chromosome 4q12. SPGF30 (OMIM ) is caused by mutation in the TDRD9 gene (OMIM ) on chromosome 14q32. SPGF31 (OMIM ), characterized by acephalic spermatozoa, is caused by mutation in the PMFBP1 gene (OMIM ) on chromosome 16q22. SPGF32 (OMIM ) is caused by mutation in the SOHLH1 gene (OMIM ) on chromosome 9q34.X-linked forms of spermatogenic failure include SPGFX1 (OMIM ) and SPGFX2 (OMIM ).Y-linked forms of spermatogenic failure include SPGFY1 (OMIM ) and SPGFY2 (OMIM ).Spermatogenic failure can also result from underlying endocrinologic disorders (see, e.g., hypogonadotropic hypogonadism, {146110}) or ciliary dyskinesias (see, e.g., CILD1, {244400}).

Clinical Features

Phenotypes and symptoms related to Spermatogenic Failure 1; Spgf1

  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Hypogonadism
  • Infertility
  • Dyskinesia
  • Azoospermia
  • Male infertility
  • Acephalic spermatozoa
  • Globozoospermia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Spermatogenic Failure 1; Spgf1 Is also known as oligosynaptic infertility, oligochiasmatic infertility.

Researches and researchers

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Sources and references

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MESH OMIM Rare Disease Symptoms Checker

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