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Spermatogenic failure 42(SPGF42)

MedGen UID:: 1684744
•Concept ID:: C5231488
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 42; SPGF42

Gene (location): Gene(s) directly associated with this condition or phenotype.	TTC29 (4q31.22)

Monarch Initiative:	MONDO:0032896
OMIM®:	618745

Definition

Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece (Lores et al., 2019; Liu et al., 2019). For a 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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Tapered sperm head

MedGen UID:: 1635505
•Concept ID:: C2208973
•: Finding

Sperm with cigar-shaped heads that gradually dimish in diameter (taper).

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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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Microcephalic sperm head

MedGen UID:: 1640115
•Concept ID:: C4693760
•: Finding

Decreased size of the head of sperm.

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

Microdeletions and microduplications linked to severe congenital disorders in infertile men.

Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630 Free PMC Article

Analysis of 6 single-nucleotide polymorphisms in the androgen receptor gene in Chilean patients with primary spermatogenic failure.

Parada-Bustamante A, Lardone MC, Valdevenito R, Ebensperger M, López PV, Madariaga M, Piottante A, Castro A
J Androl 2012 Jan-Feb;33(1):88-95. Epub 2011 Mar 10 doi: 10.2164/jandrol.110.012195. PMID: 21393548

Androgen receptor gene CAG and GGN repeat polymorphisms in Chilean men with primary severe spermatogenic failure.

Castro-Nallar E, Bacallao K, Parada-Bustamante A, Lardone MC, López PV, Madariaga M, Valdevenito R, Piottante A, Ebensperger M, Castro A
J Androl 2010 Nov-Dec;31(6):552-9. Epub 2010 Apr 8 doi: 10.2164/jandrol.109.008821. PMID: 20378930

Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis.

Lardone MC, Parodi DA, Valdevenito R, Ebensperger M, Piottante A, Madariaga M, Smith R, Pommer R, Zambrano N, Castro A
Mol Hum Reprod 2007 Oct;13(10):705-12. Epub 2007 Sep 19 doi: 10.1093/molehr/gam057. PMID: 17881721

Association of partial AZFc region deletions with spermatogenic impairment and male infertility.

Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, Engl B, Foresta C
J Med Genet 2005 Mar;42(3):209-13. doi: 10.1136/jmg.2004.025833. PMID: 15744033 Free PMC Article

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Diagnosis

Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.

Castro A, Rodríguez F, Flórez M, López P, Curotto B, Martínez D, Maturana A, Lardone MC, Palma C, Mericq V, Ebensperger M, Cassorla F
Hum Reprod 2017 Feb;32(2):465-475. Epub 2017 Jan 5 doi: 10.1093/humrep/dew333. PMID: 28057878

The presence of germ cells in the semen of azoospermic, cryptozoospermic and severe oligozoospermic patients: stringent flow cytometric analysis and correlations with hormonal status.

Yeung CH, Beiglböck-Karau L, Tüttelmann F, Nieschlag E
Clin Endocrinol (Oxf) 2007 Nov;67(5):767-75. Epub 2007 Jul 4 doi: 10.1111/j.1365-2265.2007.02961.x. PMID: 17610519

Frequency of microdeletions in the azoospermia factor region of the Y-chromosome of New Zealand men.

Kerr NJ, Zhang J, Sin FY, Benny P, Sin IL
N Z Med J 2000 Nov 10;113(1121):468-70. PMID: 11194754

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