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Abnormal male germ cell morphology

MedGen UID:
868309
•Concept ID:
C4022703
•
Anatomical Abnormality
HPO: HP:0012863

Definition

A structural anomaly of a male reproductive cell. [from HPO]

Conditions with this feature

Spermatogenic failure 12
MedGen UID:
815757
•Concept ID:
C3809427
•
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.
See: Condition Record
Spermatogenic failure 12

Professional guidelines

PubMed

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
Intracytoplasmic sperm injection (ICSI) for non-male factor indications: a committee opinion.
Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology. Electronic address: asrm@asrm.org
Fertil Steril 2020 Aug;114(2):239-245. Epub 2020 Jul 9 doi: 10.1016/j.fertnstert.2020.05.032. PMID: 32654822
Surgical treatment of cryptorchidism.
Canavese F, Lalla R, Linari A, Cortese MG, Gennari F, Hadziselimovic F
Eur J Pediatr 1993;152 Suppl 2:S43-4. doi: 10.1007/BF02125437. PMID: 8101814

Recent clinical studies

Etiology

Vanishing testes: a literature review.
Pirgon Ö, Dündar BN
J Clin Res Pediatr Endocrinol 2012 Sep;4(3):116-20. doi: 10.4274/Jcrpe.728. PMID: 22985611Free PMC Article
Spermatogenesis in cryptorchidism.
Agoulnik AI, Huang Z, Ferguson L
Methods Mol Biol 2012;825:127-47. doi: 10.1007/978-1-61779-436-0_11. PMID: 22144242
Gonadal tumours and DSD.
Looijenga LH, Hersmus R, de Leeuw BH, Stoop H, Cools M, Oosterhuis JW, Drop SL, Wolffenbuttel KP
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):291-310. doi: 10.1016/j.beem.2009.10.002. PMID: 20541153
Meiotic segregation of translocations during male gametogenesis.
Morel F, Douet-Guilbert N, Le Bris MJ, Herry A, Amice V, Amice J, De Braekeleer M
Int J Androl 2004 Aug;27(4):200-12. doi: 10.1111/j.1365-2605.2004.00490.x. PMID: 15271199
Toxicological aspects of cyclamate and cyclohexylamine.
Bopp BA, Sonders RC, Kesterson JW
Crit Rev Toxicol 1986;16(3):213-306. doi: 10.3109/10408448609037465. PMID: 2420530

Diagnosis

Genetic mutations contributing to non-obstructive azoospermia.
Peña VN, Kohn TP, Herati AS
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101479. Epub 2020 Dec 15 doi: 10.1016/j.beem.2020.101479. PMID: 33390350
Advanced sperm testing.
Softness KA, Trussler JT, Carrasquillo RJ
Curr Opin Urol 2020 May;30(3):290-295. doi: 10.1097/MOU.0000000000000761. PMID: 32235275
Androgen insensitivity syndrome.
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Vanishing testes: a literature review.
Pirgon Ö, Dündar BN
J Clin Res Pediatr Endocrinol 2012 Sep;4(3):116-20. doi: 10.4274/Jcrpe.728. PMID: 22985611Free PMC Article
Globozoospermia revisited.
Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA
Hum Reprod Update 2007 Jan-Feb;13(1):63-75. Epub 2006 Sep 28 doi: 10.1093/humupd/dml047. PMID: 17008355

Therapy

Testis cancer: some problems still remain unsolved.
Albers P, Bokemeyer C
World J Urol 2017 Aug;35(8):1159-1160. Epub 2017 May 16 doi: 10.1007/s00345-017-2041-5. PMID: 28509970
Androgen insensitivity syndrome.
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA
Best Pract Res Clin Endocrinol Metab 2015 Aug;29(4):569-80. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.005. PMID: 26303084
Prenatal exposure to smoking and male reproductive health.
Virtanen HE, Sadov S, Toppari J
Curr Opin Endocrinol Diabetes Obes 2012 Jun;19(3):228-32. doi: 10.1097/MED.0b013e3283537cb8. PMID: 22499223
Current advances in artificial gametes.
Nagy ZP, Chang CC
Reprod Biomed Online 2005 Sep;11(3):332-9. doi: 10.1016/s1472-6483(10)60841-3. PMID: 16176674
Seeds of concern.
Aitken RJ, Koopman P, Lewis SE
Nature 2004 Nov 4;432(7013):48-52. doi: 10.1038/432048a. PMID: 15525979

Prognosis

The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes.
Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
Androgen insensitivity syndrome.
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Cellular evidence for selfish spermatogonial selection in aged human testes.
Maher GJ, Goriely A, Wilkie AO
Andrology 2014 May;2(3):304-14. Epub 2013 Dec 19 doi: 10.1111/j.2047-2927.2013.00175.x. PMID: 24357637
Sperm DNA tests as useful adjuncts to semen analysis.
Lewis SE, Agbaje I, Alvarez J
Syst Biol Reprod Med 2008 May-Jun;54(3):111-25. doi: 10.1080/19396360801957739. PMID: 18570047
Chromosome abnormalities in human beings.
McFadden DE, Friedman JM
Mutat Res 1997 Dec 12;396(1-2):129-40. doi: 10.1016/s0027-5107(97)00179-6. PMID: 9434864

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
Globozoospermia revisited.
Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA
Hum Reprod Update 2007 Jan-Feb;13(1):63-75. Epub 2006 Sep 28 doi: 10.1093/humupd/dml047. PMID: 17008355
Current advances in artificial gametes.
Nagy ZP, Chang CC
Reprod Biomed Online 2005 Sep;11(3):332-9. doi: 10.1016/s1472-6483(10)60841-3. PMID: 16176674
Physiological and pathological cell deaths in the reproductive organs.
Sakamaki K
Cell Struct Funct 2003 Feb;28(1):31-40. doi: 10.1247/csf.28.31. PMID: 12655148
Ultrastructural abnormalities of human spermatozoa.
Dadoune JP
Hum Reprod 1988 Apr;3(3):311-8. doi: 10.1093/oxfordjournals.humrep.a136701. PMID: 3286678

Recent systematic reviews

Sperm DNA Fragmentation: Consequences for Reproduction.
Simon L, Emery B, Carrell DT
Adv Exp Med Biol 2019;1166:87-105. doi: 10.1007/978-3-030-21664-1_6. PMID: 31301048
Review: Diagnosis and impact of sperm DNA alterations in assisted reproduction.
Simon L, Emery BR, Carrell DT
Best Pract Res Clin Obstet Gynaecol 2017 Oct;44:38-56. Epub 2017 Aug 2 doi: 10.1016/j.bpobgyn.2017.07.003. PMID: 28935366
Effects of aging on the male reproductive system.
Gunes S, Hekim GN, Arslan MA, Asci R
J Assist Reprod Genet 2016 Apr;33(4):441-54. Epub 2016 Feb 11 doi: 10.1007/s10815-016-0663-y. PMID: 26867640Free PMC Article
Paternal obesity negatively affects male fertility and assisted reproduction outcomes: a systematic review and meta-analysis.
Campbell JM, Lane M, Owens JA, Bakos HW
Reprod Biomed Online 2015 Nov;31(5):593-604. Epub 2015 Aug 10 doi: 10.1016/j.rbmo.2015.07.012. PMID: 26380863
Sperm aneuploidy in infertile male patients: a systematic review of the literature.
Chatziparasidou A, Christoforidis N, Samolada G, Nijs M
Andrologia 2015 Oct;47(8):847-60. Epub 2014 Oct 28 doi: 10.1111/and.12362. PMID: 25352353

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