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Abnormal sperm tail morphology

MedGen UID:
868305
•Concept ID:
C4022699
•
Finding
Synonym: Sperm tail anomaly
 
HPO: HP:0012868

Definition

A structural abnormality of the sperm tail. [from HPO]

Conditions with this feature

Deafness-infertility syndrome
MedGen UID:
370197
•Concept ID:
C1970187
•
Disease or Syndrome
CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infertility (NSMI) or the deafness-infertility syndrome (DIS) when associated with non-progressive prelingual sensorineural hearing loss. Males with NSMI have infertility while females have no symptoms. Males with DIS have both infertility and hearing loss, while females have only hearing loss. Routine semen analysis typically identifies abnormalities in sperm number, morphology, and motility. Otologic examination and audiologic assessment can identify hearing loss.
See: Condition Record
Deafness-infertility syndrome

Professional guidelines

PubMed

Evaluation of morphological criteria of sperm quality before in vitro fertilization and intracytoplasmic sperm injection.
Lasiene K, Gedrimas V, Vitkus A, Glinskyte S, Lasys V, Valanciute A, Sienkiewicz W
Pol J Vet Sci 2013;16(4):773-85. doi: 10.2478/pjvs-2013-0112. PMID: 24597318
Ciliary syndromes and treatment.
Klysik M
Pathol Res Pract 2008;204(2):77-88. doi: 10.1016/j.prp.2007.10.013. PMID: 18312782
Evaluation of sperm morphology of electroejaculates of spinal cord-injured men by strict criteria.
Sedor JF, Hirsch IH
Fertil Steril 1995 May;63(5):1125-7. doi: 10.1016/s0015-0282(16)57561-x. PMID: 7720930

Recent clinical studies

Etiology

Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article
Teratozoospermia: spotlight on the main genetic actors in the human.
Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF
Hum Reprod Update 2015 Jul-Aug;21(4):455-85. Epub 2015 Apr 17 doi: 10.1093/humupd/dmv020. PMID: 25888788
Ultrasound of the male genital tract in relation to male reproductive health.
Lotti F, Maggi M
Hum Reprod Update 2015 Jan-Feb;21(1):56-83. Epub 2014 Jul 19 doi: 10.1093/humupd/dmu042. PMID: 25038770
Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and 'stump' tail sperm: an updated literature review.
Dávila Garza SA, Patrizio P
Curr Opin Obstet Gynecol 2013 Jun;25(3):229-46. doi: 10.1097/GCO.0b013e32835faae5. PMID: 23587797
Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail.
Chemes HE, Alvarez Sedo C
Asian J Androl 2012 Jan;14(1):14-23. Epub 2011 Dec 26 doi: 10.1038/aja.2011.168. PMID: 22198630Free PMC Article

Diagnosis

Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
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
The anatomy, movement, and functions of human sperm tail: an evolving mystery.
Kumar N, Singh AK
Biol Reprod 2021 Mar 11;104(3):508-520. doi: 10.1093/biolre/ioaa213. PMID: 33238303
Haploid male germ cells-the Grand Central Station of protein transport.
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
Major regulatory mechanisms involved in sperm motility.
Pereira R, Sá R, Barros A, Sousa M
Asian J Androl 2017 Jan-Feb;19(1):5-14. doi: 10.4103/1008-682X.167716. PMID: 26680031Free PMC Article
Teratozoospermia: spotlight on the main genetic actors in the human.
Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF
Hum Reprod Update 2015 Jul-Aug;21(4):455-85. Epub 2015 Apr 17 doi: 10.1093/humupd/dmv020. PMID: 25888788

Therapy

Age-Related Changes in Sperm Morphology and Analysis of Multiple Sperm Defects.
Kleshchev M, Osadchuk L, Osadchuk A
Front Biosci (Schol Ed) 2023 Sep 27;15(3):12. doi: 10.31083/j.fbs1503012. PMID: 37806952
Abnormal sperm morphology is associated with sensitization to inhaled allergens.
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
Major regulatory mechanisms involved in sperm motility.
Pereira R, Sá R, Barros A, Sousa M
Asian J Androl 2017 Jan-Feb;19(1):5-14. doi: 10.4103/1008-682X.167716. PMID: 26680031Free PMC Article
The immotile-cilia syndrome: a microtubule-associated defect.
Afzelius BA
CRC Crit Rev Biochem 1985;19(1):63-87. doi: 10.3109/10409238509086788. PMID: 3907978
Genetical and ultrastructural aspects of the immotile-cilia syndrome.
Afzelius BA
Am J Hum Genet 1981 Nov;33(6):852-64. PMID: 7034533Free PMC Article

Prognosis

CCDC146 is required for sperm flagellum biogenesis and male fertility in mice.
Ma Y, Wu B, Chen Y, Ma S, Wang L, Han T, Lin X, Yang F, Liu C, Zhao J, Li W
Cell Mol Life Sci 2023 Dec 1;81(1):1. doi: 10.1007/s00018-023-05025-x. PMID: 38038747
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
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
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article
Teratozoospermia: spotlight on the main genetic actors in the human.
Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF
Hum Reprod Update 2015 Jul-Aug;21(4):455-85. Epub 2015 Apr 17 doi: 10.1093/humupd/dmv020. PMID: 25888788
Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail.
Chemes HE, Alvarez Sedo C
Asian J Androl 2012 Jan;14(1):14-23. Epub 2011 Dec 26 doi: 10.1038/aja.2011.168. PMID: 22198630Free PMC Article

Clinical prediction guides

Prediction of Sperm Progression in Three Dimensions Using Rapid Optical Imaging and Dynamic Mechanical Modeling.
Nassir M, Levi M, Dardikman-Yoffe G, Mirsky SK, Shaked NT
Cells 2022 Apr 13;11(8) doi: 10.3390/cells11081319. PMID: 35455999Free PMC Article
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
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
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article
Ultrasound of the male genital tract in relation to male reproductive health.
Lotti F, Maggi M
Hum Reprod Update 2015 Jan-Feb;21(1):56-83. Epub 2014 Jul 19 doi: 10.1093/humupd/dmu042. PMID: 25038770
Evaluation of morphological criteria of sperm quality before in vitro fertilization and intracytoplasmic sperm injection.
Lasiene K, Gedrimas V, Vitkus A, Glinskyte S, Lasys V, Valanciute A, Sienkiewicz W
Pol J Vet Sci 2013;16(4):773-85. doi: 10.2478/pjvs-2013-0112. PMID: 24597318

Recent systematic reviews

Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review.
Mazaheri Moghaddam M, Mazaheri Moghaddam M, Hamzeiy H, Baghbanzadeh A, Pashazadeh F, Sakhinia E
J Assist Reprod Genet 2021 Mar;38(3):573-586. Epub 2021 Jan 15 doi: 10.1007/s10815-020-02008-w. PMID: 33452591Free PMC Article
Primary cilia: biosensors of the male reproductive tract.
Girardet L, Augière C, Asselin MP, Belleannée C
Andrology 2019 Sep;7(5):588-602. Epub 2019 May 26 doi: 10.1111/andr.12650. PMID: 31131532
Ultrasound of the male genital tract in relation to male reproductive health.
Lotti F, Maggi M
Hum Reprod Update 2015 Jan-Feb;21(1):56-83. Epub 2014 Jul 19 doi: 10.1093/humupd/dmu042. PMID: 25038770

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