Spermatogenic failure, X-linked, 5(SPGFX5)

MedGen UID:: 1840194
•Concept ID:: C5829558
•: Disease or Syndrome

Synonym:	SPGFX5

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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Reduced sperm motility

MedGen UID:: 98339
•Concept ID:: C0403823
•: Disease or Syndrome

An abnormal reduction in the mobility of ejaculated sperm.

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Absent sperm flagella

MedGen UID:: 1623855
•Concept ID:: C4539786
•: Finding

Sperm cells lacking flagella.

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Short sperm flagella

MedGen UID:: 1623693
•Concept ID:: C4539787
•: Finding

Sperm cells with abnormally short flagella.

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Coiled sperm flagella

MedGen UID:: 1611216
•Concept ID:: C4539789
•: Finding

Sperm cells whose flagella are twisted (coiled).

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Irregularly shaped sperm tail

MedGen UID:: 1687959
•Concept ID:: C5233737
•: Finding

Irregular or changing caliber (diameter) along the tail of the sperm.

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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.

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

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: 23555275 Free PMC Article

Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure.

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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