Spermatogenic failure 54(SPGF54)

MedGen UID:: 1782493
•Concept ID:: C5543570
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE 54; SPGF54

Gene (location): Gene(s) directly associated with this condition or phenotype.	CATIP (2q35)

Monarch Initiative:	MONDO:0023664
OMIM®:	619379

Definition

Spermatogenic failure-54 (SPGF54) is characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility (Arafat et al., 2021). 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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Oligospermia

MedGen UID:: 18162
•Concept ID:: C0028960
•: Disease or Syndrome

Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.

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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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Cryptozoospermia

MedGen UID:: 481180
•Concept ID:: C3279550
•: Disease or Syndrome

A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.

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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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Abnormal sperm axoneme morphology

MedGen UID:: 1782796
•Concept ID:: C5539895
•: Finding

Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.

Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514

Quantitative histological analysis and ultrastructure of the aging human testis.

Jiang H, Zhu WJ, Li J, Chen QJ, Liang WB, Gu YQ
Int Urol Nephrol 2014 May;46(5):879-85. Epub 2013 Nov 26 doi: 10.1007/s11255-013-0610-0. PMID: 24277275

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.

Chianese C, Lo Giacco D, Tüttelmann F, Ferlin A, Ntostis P, Vinci S, Balercia G, Ars E, Ruiz-Castañé E, Giglio S, Forti G, Kliesch S, Krausz C
Hum Reprod 2013 Nov;28(11):3155-60. Epub 2013 Sep 5 doi: 10.1093/humrep/det322. PMID: 24008148

Flow cytometry application in the assessment of sperm DNA integrity of men with asthenozoospermia.

Piasecka M, Gaczarzewicz D, Laszczyńska M, Starczewski A, Brodowska A
Folia Histochem Cytobiol 2007;45 Suppl 1:S127-36. PMID: 18292820

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