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Abnormal sperm morphology

MedGen UID:
588677
Concept ID:
C0403824
Disease or Syndrome; Finding
Synonym: Teratozoospermia
SNOMED CT: Teratozoospermia (236817003)
 
HPO: HP:0012864

Definition

A structural anomaly of sperm. [from HPO]

Conditions with this feature

Autosomal recessive nonsyndromic hearing loss 32
MedGen UID:
373370
Concept ID:
C1837608
Disease or Syndrome
DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology (Imtiaz et al., 2018).
Spermatogenic failure 10
MedGen UID:
766707
Concept ID:
C3553793
Disease or Syndrome
Spermatogenic failure-10 (SPGF10) is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by Kuo et al., 2012). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 11
MedGen UID:
767367
Concept ID:
C3554453
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.
Spermatogenic failure 36
MedGen UID:
1678385
Concept ID:
C5193086
Disease or Syndrome
Spermatogenic failure-36 (SPGF36) is characterized by reduced fertility due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus (Guran et al., 2019). For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Professional guidelines

PubMed

Check JH, Bollendorf A
Clin Exp Obstet Gynecol 2017;44(2):183-184. PMID: 29746017
Magdi Y, Darwish E, Elbashir S, Majzoub A, Agarwal A
Andrologia 2017 Sep;49(7) Epub 2016 Nov 10 doi: 10.1111/and.12694. PMID: 27859525
Isidori A, Latini M, Romanelli F
Contraception 2005 Oct;72(4):314-8. doi: 10.1016/j.contraception.2005.05.007. PMID: 16181978

Recent clinical studies

Etiology

Sertorio MN, Estadella D, Ribeiro DA, Pisani LP
Crit Rev Food Sci Nutr 2023;63(14):2074-2081. Epub 2021 Aug 26 doi: 10.1080/10408398.2021.1970509. PMID: 34445915
Sadraei MR, Tavalaee M, Forouzanfar M, Nasr-Esfahani MH
Andrologia 2022 Feb;54(1):e14282. Epub 2021 Nov 10 doi: 10.1111/and.14282. PMID: 34755901
Patel P, Carrasquillo R, Madhusoodanan V, Dadoun S, Patel A, Smith N, Collazo I, Kohn T, Ramasamy R
J Urol 2019 Oct;202(4):801-805. Epub 2019 Sep 6 doi: 10.1097/JU.0000000000000288. PMID: 31009287
Liu Y, Ding Z
Reproduction 2017 Oct;154(4):R123-R131. Epub 2017 Jul 26 doi: 10.1530/REP-17-0161. PMID: 28747541
Hsu PC, Li MC, Lee YC, Kuo PL, Guo YL
Chemosphere 2016 Dec;165:294-297. Epub 2016 Sep 30 doi: 10.1016/j.chemosphere.2016.09.035. PMID: 27662390

Diagnosis

Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
Am J Hum Genet 2022 Jan 6;109(1):157-171. Epub 2021 Dec 20 doi: 10.1016/j.ajhg.2021.11.022. PMID: 34932939Free PMC Article
Aldahhan RA, Stanton PG
Mol Cell Endocrinol 2021 May 1;527:111216. Epub 2021 Feb 24 doi: 10.1016/j.mce.2021.111216. PMID: 33639219
Pleuger C, Lehti MS, Dunleavy JE, Fietz D, O'Bryan MK
Hum Reprod Update 2020 Jun 18;26(4):474-500. doi: 10.1093/humupd/dmaa004. PMID: 32318721
Liu Y, Ding Z
Reproduction 2017 Oct;154(4):R123-R131. Epub 2017 Jul 26 doi: 10.1530/REP-17-0161. PMID: 28747541
Menkveld R, Holleboom CA, Rhemrev JP
Asian J Androl 2011 Jan;13(1):59-68. Epub 2010 Nov 15 doi: 10.1038/aja.2010.67. PMID: 21076438Free PMC Article

Therapy

Adamczak R, Ukleja-Sokołowska N, Pasińska M, Zielińska J, Leśny M, Dubiel M
Int J Immunopathol Pharmacol 2022 Jan-Dec;36:20587384211066718. doi: 10.1177/20587384211066718. PMID: 34984934Free PMC Article
Omolaoye TS, El Shahawy O, Skosana BT, Boillat T, Loney T, du Plessis SS
Environ Sci Pollut Res Int 2022 Sep;29(41):62055-62066. Epub 2021 Sep 18 doi: 10.1007/s11356-021-16331-x. PMID: 34536221Free PMC Article
Navaneethabalakrishnan S, Goodlett BL, Lopez AH, Rutkowski JM, Mitchell BM
Clin Sci (Lond) 2020 Dec 23;134(24):3237-3257. doi: 10.1042/CS20201023. PMID: 33346358Free PMC Article
Patel P, Carrasquillo R, Madhusoodanan V, Dadoun S, Patel A, Smith N, Collazo I, Kohn T, Ramasamy R
J Urol 2019 Oct;202(4):801-805. Epub 2019 Sep 6 doi: 10.1097/JU.0000000000000288. PMID: 31009287
Weisberg E
Clin Reprod Fertil 1985 Sep;3(3):175-86. PMID: 3910212

Prognosis

Tian S, Tu C, He X, Meng L, Wang J, Tang S, Gao Y, Liu C, Wu H, Zhou Y, Lv M, Lin G, Jin L, Cao Y, Tang D, Zhang F, Tan YQ
J Med Genet 2023 Aug;60(8):827-834. Epub 2023 Jan 2 doi: 10.1136/jmg-2022-108887. PMID: 36593121
Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
Am J Hum Genet 2022 Jan 6;109(1):157-171. Epub 2021 Dec 20 doi: 10.1016/j.ajhg.2021.11.022. PMID: 34932939Free PMC Article
Patel P, Carrasquillo R, Madhusoodanan V, Dadoun S, Patel A, Smith N, Collazo I, Kohn T, Ramasamy R
J Urol 2019 Oct;202(4):801-805. Epub 2019 Sep 6 doi: 10.1097/JU.0000000000000288. PMID: 31009287
Azad N, Nazarian H, Ghaffari Novin M, Masteri Farahani R, Piryaei A, Heidari MH
Ann Anat 2018 Jan;215:63-70. Epub 2017 Sep 24 doi: 10.1016/j.aanat.2017.09.007. PMID: 28954206
Shabtaie SA, Gerkowicz SA, Kohn TP, Ramasamy R
Curr Urol Rep 2016 Sep;17(9):67. doi: 10.1007/s11934-016-0623-1. PMID: 27469478

Clinical prediction guides

Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
Am J Hum Genet 2022 Jan 6;109(1):157-171. Epub 2021 Dec 20 doi: 10.1016/j.ajhg.2021.11.022. PMID: 34932939Free PMC Article
Kohn TP, Kohn JR, Ramasamy R
J Urol 2018 Mar;199(3):812-822. Epub 2017 Nov 9 doi: 10.1016/j.juro.2017.11.045. PMID: 29129781
Hsu PC, Li MC, Lee YC, Kuo PL, Guo YL
Chemosphere 2016 Dec;165:294-297. Epub 2016 Sep 30 doi: 10.1016/j.chemosphere.2016.09.035. PMID: 27662390
Shabtaie SA, Gerkowicz SA, Kohn TP, Ramasamy R
Curr Urol Rep 2016 Sep;17(9):67. doi: 10.1007/s11934-016-0623-1. PMID: 27469478
Utsuno H, Miyamoto T, Oka K, Shiozawa T
Hum Reprod 2014 Nov;29(11):2374-81. Epub 2014 Sep 4 doi: 10.1093/humrep/deu225. PMID: 25190724

Recent systematic reviews

Wen L, Tian H, Huang X, Song T, Tang L, Wei W, Tian S, Huang Y, Zhang X
J Glob Health 2024 Aug 30;14:05021. doi: 10.7189/jogh.14.05021. PMID: 39212663Free PMC Article
Henriques MC, Loureiro S, Fardilha M, Herdeiro MT
Reprod Toxicol 2019 Apr;85:93-103. Epub 2019 Mar 1 doi: 10.1016/j.reprotox.2019.02.012. PMID: 30831212
Kohn TP, Kohn JR, Ramasamy R
J Urol 2018 Mar;199(3):812-822. Epub 2017 Nov 9 doi: 10.1016/j.juro.2017.11.045. PMID: 29129781

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