U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spermatogenic failure 63(SPGF63)

MedGen UID:
1794265
Concept ID:
C5562055
Disease or Syndrome
Synonym: SPGF63
 
Gene (location): RPL10L (14q21.2)
 
Monarch Initiative: MONDO:0030515
OMIM®: 619689

Definition

Spermatogenic failure-63 (SPGF63) is characterized by male infertility due to severe oligozoospermia with markedly reduced progressive motility (Tu et al., 2020). 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.
Decreased testicular size
MedGen UID:
66027
Concept ID:
C0241355
Finding
Reduced volume of the testicle (the male gonad).
Oligozoospermia
MedGen UID:
678638
Concept ID:
C0868910
Finding
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
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

Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
Li HG, Fan LH, Liu B, Qian YQ, Chen M, Sun YX, Dong MY
Asian J Androl 2020 Nov-Dec;22(6):642-648. doi: 10.4103/aja.aja_13_20. PMID: 32362598Free PMC Article
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
Tash JA, McCallum S, Hardy MP, Knudsen B, Schlegel PN
J Urol 2002 Sep;168(3):1068-70. doi: 10.1016/S0022-5347(05)64576-4. PMID: 12187224

Diagnosis

Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
Sachdeva K, Saxena R, Majumdar A, Chadda S, Verma IC
Genet Test Mol Biomarkers 2011 Jun;15(6):451-9. Epub 2011 Mar 4 doi: 10.1089/gtmb.2010.0159. PMID: 21375402
Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791

Therapy

Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M
Hum Reprod 2024 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057. PMID: 38511217
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552

Prognosis

Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
Meseguer M, Santiso R, Garrido N, Gil-Salom M, Remohí J, Fernandez JL
Fertil Steril 2009 Nov;92(5):1638-45. Epub 2008 Nov 11 doi: 10.1016/j.fertnstert.2008.08.106. PMID: 19006791
Writzl K, Sehić A, Terzić R, Peterlin B
Coll Antropol 2004;28 Suppl 2:283-9. PMID: 15571102
Kuo PL, Lin YH, Teng YN, Hsu CC, Lin JS, Lin YM
Urology 2004 Jan;63(1):131-6; discussion 136. doi: 10.1016/j.urology.2003.08.048. PMID: 14751364

Clinical prediction guides

Huang WL, Ding L, Yao JH, Hu HT, Gao Y, Xie XY, Lu MD, Deng CH, Xie Y, Wang Z
Andrologia 2021 Mar;53(2):e13927. Epub 2020 Dec 23 doi: 10.1111/and.13927. PMID: 33355959
Hashemi MS, Mozdarani H, Ghaedi K, Nasr-Esfahani MH
Andrology 2018 Nov;6(6):890-895. Epub 2018 Jul 27 doi: 10.1111/andr.12528. PMID: 30054974
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
Sachdeva K, Saxena R, Majumdar A, Chadda S, Verma IC
Genet Test Mol Biomarkers 2011 Jun;15(6):451-9. Epub 2011 Mar 4 doi: 10.1089/gtmb.2010.0159. PMID: 21375402
Reijo RA, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, Cooke H, Page DC
Biol Reprod 2000 Nov;63(5):1490-6. doi: 10.1095/biolreprod63.5.1490. PMID: 11058556

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...