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Spermatogenic failure 91(SPGF91)

MedGen UID:
1862682
Concept ID:
C5935623
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 91; SPGF91
 
Monarch Initiative: MONDO:0970952
OMIM®: 620838

Definition

Spermatogenic failure-91 (SPGF91) is characterized by male infertility due to teratozoospermia. Patient sperm show defects of the head, including a misshapen rounded head and detachment of the acrosome, and the sperm fail to attach to the zona pellucida of the egg. Pregnancy can be achieved using intracytoplasmic sperm injection (ICSI) (Oud et al., 2020; Fan et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (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.
Globozoospermia
MedGen UID:
96048
Concept ID:
C0403825
Finding
Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
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.
Reduced sperm motility
MedGen UID:
907698
Concept ID:
C4082176
Finding
An abnormal reduction in the mobility of ejaculated sperm.
Irregularly shaped sperm tail
MedGen UID:
1687959
Concept ID:
C5233737
Finding
Irregular or changing caliber (diameter) along the tail of the sperm.
Reduced progressive sperm motility
MedGen UID:
1730031
Concept ID:
C5436680
Finding
A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.

Professional guidelines

PubMed

Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344Free PMC Article

Recent clinical studies

Etiology

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
Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L
Gene 2014 Sep 1;547(2):191-4. Epub 2014 May 28 doi: 10.1016/j.gene.2014.05.061. PMID: 24878370
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344Free PMC Article
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K, Page DC
Am J Hum Genet 2012 Nov 2;91(5):890-6. Epub 2012 Oct 25 doi: 10.1016/j.ajhg.2012.09.003. PMID: 23103232Free PMC Article
Layman LC, Tho SP, Clark AD, Kulharya A, McDonough PG
Fertil Steril 2009 Mar;91(3):791-7. Epub 2008 Jun 16 doi: 10.1016/j.fertnstert.2007.12.078. PMID: 18555994Free PMC Article

Diagnosis

Liu X, Zhang H, Zhang X, Zhang H, Jiang Y, Liu R, Fei J, Wang Y, Yu Y
J Assist Reprod Genet 2021 Apr;38(4):941-948. Epub 2021 Jan 16 doi: 10.1007/s10815-020-02031-x. PMID: 33454900Free PMC Article
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
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344Free PMC Article
Layman LC, Tho SP, Clark AD, Kulharya A, McDonough PG
Fertil Steril 2009 Mar;91(3):791-7. Epub 2008 Jun 16 doi: 10.1016/j.fertnstert.2007.12.078. PMID: 18555994Free PMC Article

Prognosis

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
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344Free PMC Article

Clinical prediction guides

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
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. PMID: 24193344Free PMC Article
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K, Page DC
Am J Hum Genet 2012 Nov 2;91(5):890-6. Epub 2012 Oct 25 doi: 10.1016/j.ajhg.2012.09.003. PMID: 23103232Free PMC Article
Leifke E, Simoni M, Kamischke A, Gromoll J, Bergmann M, Nieschlag E
Int J Androl 1997 Feb;20(1):29-36. doi: 10.1046/j.1365-2605.1997.00102.x. PMID: 9202988

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