SPERMATOGENIC FAILURE 97(SPGF97)

MedGen UID:: 1057186
•Concept ID:: CN378774
•: Disease or Syndrome

Synonym:	SPGF97

Gene (location): Gene(s) directly associated with this condition or phenotype.	NUP210L (1q21.3)

OMIM®:	621057

Definition

Spermatogenic failure-97 (SPGF97) is characterized by male infertility due to oligoasthenoteratozoospermia. The nuclear chromatin of spermatozoa is highly uncondensed, and there are increased rates of headless and tailless sperm as well as large-headed sperm (Arafah et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Recent clinical studies

Etiology

Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.

Cerván-Martín M, Bossini-Castillo L, Guzmán-Jiménez A, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S; IVIRMA Group; Lisbon Clinical Group, Castilla JA, Gonzalvo MDC, Clavero A, Maldonado V, Vicente FJ, Burgos M, Jiménez R, González-Muñoz S, Sánchez-Curbelo J, López-Rodrigo O, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD
Andrology 2022 Oct;10(7):1339-1350. Epub 2022 Jul 8 doi: 10.1111/andr.13221. PMID: 35752927 Free PMC Article

Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub-region in infertile Iraqi patients with azoospermia and severe oligozoospermia.

S Al-Ouqaili MT, Al-Ani SK, Alaany R, Al-Qaisi MN
J Clin Lab Anal 2022 Mar;36(3):e24272. Epub 2022 Feb 5 doi: 10.1002/jcla.24272. PMID: 35122324 Free PMC Article

Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese.

Zhu XB, Lu JQ, Zhi EL, Zhu Y, Zou SS, Zhu ZJ, Zhang F, Li Z
J Assist Reprod Genet 2016 Aug;33(8):1099-104. Epub 2016 May 27 doi: 10.1007/s10815-016-0738-9. PMID: 27233649 Free PMC Article

Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population.

Gu A, Ji G, Shi X, Long Y, Xia Y, Song L, Wang S, Wang X
Hum Reprod 2010 Dec;25(12):2955-61. Epub 2010 Oct 11 doi: 10.1093/humrep/deq274. PMID: 20940137

1H nuclear magnetic resonance studies of seminal plasma from fertile and infertile men.

Hamamah S, Seguin F, Barthelemy C, Akoka S, Le Pape A, Lansac J, Royere D
J Reprod Fertil 1993 Jan;97(1):51-5. doi: 10.1530/jrf.0.0970051. PMID: 8464025

See all (6)

Diagnosis

Genomic testing for copy number and single nucleotide variants in spermatogenic failure.

Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255 Free PMC Article

See all (1)

Clinical prediction guides

Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.

Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population.

Gu A, Ji G, Shi X, Long Y, Xia Y, Song L, Wang S, Wang X
Hum Reprod 2010 Dec;25(12):2955-61. Epub 2010 Oct 11 doi: 10.1093/humrep/deq274. PMID: 20940137

See all (2)

MedGen

National Center for Biotechnology Information

Send to:

SPERMATOGENIC FAILURE 97(SPGF97)

Definition

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity