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Abnormal germ cell morphology

MedGen UID:
868310
•Concept ID:
C4022704
•
Anatomical Abnormality
Synonyms: Abnormal shape of a reproductive cell; Abnormally shaped germ cell; Abnormally shaped reproductive cell
 
HPO: HP:0012862

Definition

Any structural anomaly of a reproductive cell. [from HPO]

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

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ
Am J Hum Genet 2024 Mar 7;111(3):584-593. Epub 2024 Feb 27 doi: 10.1016/j.ajhg.2024.02.002. PMID: 38417439Free PMC Article
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Neonatal cancer.
Orbach D, Sarnacki S, Brisse HJ, Gauthier-Villars M, Jarreau PH, Tsatsaris V, Baruchel A, Zerah M, Seigneur E, Peuchmaur M, Doz F
Lancet Oncol 2013 Dec;14(13):e609-20. doi: 10.1016/S1470-2045(13)70236-5. PMID: 24275134
Mosaic RASopathies.
Hafner C, Groesser L
Cell Cycle 2013 Jan 1;12(1):43-50. Epub 2012 Dec 19 doi: 10.4161/cc.23108. PMID: 23255105Free 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

Diagnosis

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ
Am J Hum Genet 2024 Mar 7;111(3):584-593. Epub 2024 Feb 27 doi: 10.1016/j.ajhg.2024.02.002. PMID: 38417439Free PMC Article
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
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Hyperglycosylated hCG.
Cole LA
Placenta 2007 Oct;28(10):977-86. Epub 2007 Mar 7 doi: 10.1016/j.placenta.2007.01.011. PMID: 17346790

Therapy

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
Semen abnormalities with SSRI antidepressants.
Prescrire Int 2015 Jan;24(156):16-7. PMID: 25729824
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Human oocyte maturation in vitro.
Coticchio G, Dal-Canto M, Guglielmo MC, Mignini-Renzini M, Fadini R
Int J Dev Biol 2012;56(10-12):909-18. doi: 10.1387/ijdb.120135gv. PMID: 23417413
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

Prognosis

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ
Am J Hum Genet 2024 Mar 7;111(3):584-593. Epub 2024 Feb 27 doi: 10.1016/j.ajhg.2024.02.002. PMID: 38417439Free PMC Article
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
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Hyperglycosylated hCG.
Cole LA
Placenta 2007 Oct;28(10):977-86. Epub 2007 Mar 7 doi: 10.1016/j.placenta.2007.01.011. PMID: 17346790

Clinical prediction guides

Human Oocyte Morphology and Outcomes of Infertility Treatment: a Systematic Review.
Nikiforov D, Grøndahl ML, Hreinsson J, Andersen CY
Reprod Sci 2022 Oct;29(10):2768-2785. Epub 2021 Nov 23 doi: 10.1007/s43032-021-00723-y. PMID: 34816375
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

Human Oocyte Morphology and Outcomes of Infertility Treatment: a Systematic Review.
Nikiforov D, Grøndahl ML, Hreinsson J, Andersen CY
Reprod Sci 2022 Oct;29(10):2768-2785. Epub 2021 Nov 23 doi: 10.1007/s43032-021-00723-y. PMID: 34816375
Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation.
Cornelisse S, Zagers M, Kostova E, Fleischer K, van Wely M, Mastenbroek S
Cochrane Database Syst Rev 2020 Sep 8;9(9):CD005291. doi: 10.1002/14651858.CD005291.pub3. PMID: 32898291Free PMC Article
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
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
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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