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Spermatogenic failure, X-linked, 5(SPGFX5)

MedGen UID:
1840194
Concept ID:
C5829558
Disease or Syndrome
Synonym: SPGFX5
 
Gene (location): SSX1 (Xp11.23)
 
Monarch Initiative: MONDO:0859477
OMIM®: 301099

Definition

X-linked spermatogenic failure-5 (SPGFX5) is characterized by male infertility due to asthenoteratozoospermia. Patient sperm shows reduced or absent progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, including short, coiled, irregular caliber, absent, and/or angulated flagella. Pregnancy may be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2023). 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.
Reduced sperm motility
MedGen UID:
907698
Concept ID:
C4082176
Finding
An abnormal reduction in the mobility of ejaculated sperm.
Absent sperm flagella
MedGen UID:
1623855
Concept ID:
C4539786
Finding
Sperm cells lacking flagella.
Short sperm flagella
MedGen UID:
1623693
Concept ID:
C4539787
Finding
Sperm cells with abnormally short flagella.
Coiled sperm flagella
MedGen UID:
1611216
Concept ID:
C4539789
Finding
Sperm cells whose flagella are twisted (coiled).
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.

Recent clinical studies

Etiology

Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275Free PMC Article
Akinloye O, Gromoll J, Callies C, Nieschlag E, Simoni M
Andrologia 2007 Oct;39(5):190-5. doi: 10.1111/j.1439-0272.2007.00789.x. PMID: 17714218

Clinical prediction guides

Akinloye O, Gromoll J, Callies C, Nieschlag E, Simoni M
Andrologia 2007 Oct;39(5):190-5. doi: 10.1111/j.1439-0272.2007.00789.x. PMID: 17714218

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