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Spermatogenic failure 47(SPGF47)

MedGen UID:
1721477
•Concept ID:
C5436818
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 47; SPGF47
 
Gene (location): DZIP1 (13q32.1)
 
Monarch Initiative: MONDO:0030844
OMIM®: 619102

Definition

Spermatogenic failure-47 (SPGF47) is characterized by male infertility due to asthenoteratospermia. Affected individuals have reduced sperm concentrations and spermatozoa are immotile, with short or absent flagella as well as centriolar abnormalities (Lv et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. [from OMIM]

Clinical features

From HPO
Male infertility
MedGen UID:
5796
•Concept ID:
C0021364
•
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
See: Feature record | Search on this feature
Oligozoospermia
MedGen UID:
678638
•Concept ID:
C0868910
•
Finding
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
See: Feature record | Search on this feature
Immotile sperm
MedGen UID:
701339
•Concept ID:
C1278278
•
Finding
A lack of mobility of ejaculated sperm.
See: Feature record | Search on this feature
Absent sperm flagella
MedGen UID:
1623855
•Concept ID:
C4539786
•
Finding
Sperm cells lacking flagella.
See: Feature record | Search on this feature
Short sperm flagella
MedGen UID:
1623693
•Concept ID:
C4539787
•
Finding
Sperm cells with abnormally short flagella.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.
Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF
Mol Biol Rep 2020 Oct;47(10):7623-7632. Epub 2020 Sep 29 doi: 10.1007/s11033-020-05832-6. PMID: 32996047
Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory.
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Relationship of genetic causes and inhibin B in non obstructive azoospermia spermatogenic failure.
Chu QJ, Hua R, Luo C, Chen QJ, Wu B, Quan S, Zhu YT
BMC Med Genet 2017 Sep 6;18(1):98. doi: 10.1186/s12881-017-0456-x. PMID: 28874128Free PMC Article
Klinefelter syndrome and TESE-ICSI.
Plotton I, Brosse A, Cuzin B, Lejeune H
Ann Endocrinol (Paris) 2014 May;75(2):118-25. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.004. PMID: 24786702
High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates.
de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R
Hum Reprod 2005 Jan;20(1):216-20. Epub 2004 Oct 28 doi: 10.1093/humrep/deh582. PMID: 15513974

Diagnosis

Genomic testing for copy number and single nucleotide variants in spermatogenic failure.
Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255Free PMC Article
MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility.
Röpke A, Tüttelmann F
Eur J Endocrinol 2017 Nov;177(5):R249-R259. Epub 2017 Jun 13 doi: 10.1530/EJE-17-0246. PMID: 28611019
New concepts in Klinefelter syndrome.
Paduch DA, Fine RG, Bolyakov A, Kiper J
Curr Opin Urol 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. PMID: 18832949
Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia.
Zhou-Cun A, Yang Y, Zhang SZ, Zhang W, Lin L
Yi Chuan Xue Bao 2006 Feb;33(2):111-6. doi: 10.1016/s0379-4172(06)60029-2. PMID: 16529294
Genetic concerns for the subfertile male in the era of ICSI.
Kim ED, Bischoff FZ, Lipshultz LI, Lamb DJ
Prenat Diagn 1998 Dec;18(13):1349-65. PMID: 9949435

Therapy

Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study.
Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF
Mol Biol Rep 2020 Oct;47(10):7623-7632. Epub 2020 Sep 29 doi: 10.1007/s11033-020-05832-6. PMID: 32996047
Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory.
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Klinefelter syndrome and TESE-ICSI.
Plotton I, Brosse A, Cuzin B, Lejeune H
Ann Endocrinol (Paris) 2014 May;75(2):118-25. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.004. PMID: 24786702
New concepts in Klinefelter syndrome.
Paduch DA, Fine RG, Bolyakov A, Kiper J
Curr Opin Urol 2008 Nov;18(6):621-7. doi: 10.1097/MOU.0b013e32831367c7. PMID: 18832949

Prognosis

Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men.
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Sperm DNA fragmentation levels in testicular sperm samples from azoospermic males as assessed by the sperm chromatin dispersion (SCD) test.
Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791
High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates.
de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R
Hum Reprod 2005 Jan;20(1):216-20. Epub 2004 Oct 28 doi: 10.1093/humrep/deh582. PMID: 15513974

Clinical prediction guides

Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men.
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Clinical and cytogenomic studies in a case of infertility associated with a nonmosaic dicentric Y chromosome.
Cui YX, Wang WP, Li TF, Li WW, Wu QY, Li N, Zhang C, Yao Q, Hu YA, Xia XY
Andrologia 2015 May;47(4):477-81. Epub 2014 Apr 2 doi: 10.1111/and.12278. PMID: 24698150
Sperm DNA fragmentation levels in testicular sperm samples from azoospermic males as assessed by the sperm chromatin dispersion (SCD) test.
Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791
The outcome of intracytoplasmic sperm injection using occasional spermatozoa in the ejaculate of men with spermatogenic failure.
Bendikson KA, Neri QV, Takeuchi T, Toschi M, Schlegel PN, Rosenwaks Z, Palermo GD
J Urol 2008 Sep;180(3):1060-4. Epub 2008 Jul 17 doi: 10.1016/j.juro.2008.05.025. PMID: 18639294
Association of meiotic arrest with lack of BOULE protein expression in infertile men.
Luetjens CM, Xu EY, Rejo Pera RA, Kamischke A, Nieschlag E, Gromoll J
J Clin Endocrinol Metab 2004 Apr;89(4):1926-33. doi: 10.1210/jc.2003-031178. PMID: 15070965

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