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Abnormal reproductive system morphology

MedGen UID:
866746
Concept ID:
C4021096
Anatomical Abnormality
Synonym: Abnormal genital system morphology
 
HPO: HP:0012243

Definition

A structural or developmental anomaly of any of the tissues involved in the genital system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal reproductive system morphology

Professional guidelines

PubMed

Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Lacheta J
Ceska Gynekol 2019 Spring;84(3):240-246. PMID: 31324117
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article

Recent clinical studies

Etiology

Dishuck CF, Perchik JD, Porter KK, Gunn DD
Curr Urol Rep 2019 Nov 16;20(11):77. doi: 10.1007/s11934-019-0942-0. PMID: 31734736
van der Horst HJ, de Wall LL
Eur J Pediatr 2017 Apr;176(4):435-441. Epub 2017 Feb 11 doi: 10.1007/s00431-017-2864-5. PMID: 28190103Free PMC Article
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

Diagnosis

Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Dishuck CF, Perchik JD, Porter KK, Gunn DD
Curr Urol Rep 2019 Nov 16;20(11):77. doi: 10.1007/s11934-019-0942-0. PMID: 31734736
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article

Therapy

Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Macedo A Jr, Rondon A, Ortiz V
Curr Opin Urol 2012 Nov;22(6):447-52. doi: 10.1097/MOU.0b013e328357bc62. PMID: 23026892
Borchers A, Teuber SS, Keen CL, Gershwin ME
Clin Rev Allergy Immunol 2010 Oct;39(2):95-141. doi: 10.1007/s12016-009-8176-4. PMID: 19911313

Prognosis

Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Hutson JM, Balic A, Nation T, Southwell B
Semin Pediatr Surg 2010 Aug;19(3):215-24. doi: 10.1053/j.sempedsurg.2010.04.001. PMID: 20610195
Leung AK, Robson WL
Asian J Androl 2007 Jan;9(1):16-22. doi: 10.1111/j.1745-7262.2007.00243.x. PMID: 17187155
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886
Duncan PA, Shapiro LR, Klein RM
Am J Med Genet 1991 Nov 1;41(2):153-61. doi: 10.1002/ajmg.1320410203. PMID: 1785625

Clinical prediction guides

Pfeifer SM, Attaran M, Goldstein J, Lindheim SR, Petrozza JC, Rackow BW, Siegelman E, Troiano R, Winter T, Zuckerman A, Ramaiah SD
Fertil Steril 2021 Nov;116(5):1238-1252. doi: 10.1016/j.fertnstert.2021.09.025. PMID: 34756327
Ludwin A, Coelho Neto MA, Ludwin I, Nastri CO, Costa W, Acién M, Alcazar JL, Benacerraf B, Condous G, DeCherney A, De Wilde RL, Diamond MP, Emanuel MH, Guerriero S, Hurd W, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E, Martins WP
Ultrasound Obstet Gynecol 2020 Jun;55(6):815-829. Epub 2020 May 15 doi: 10.1002/uog.20845. PMID: 31432589
Ludwin A, Martins WP, Nastri CO, Ludwin I, Coelho Neto MA, Leitão VM, Acién M, Alcazar JL, Benacerraf B, Condous G, De Wilde RL, Emanuel MH, Gibbons W, Guerriero S, Hurd WW, Levine D, Lindheim S, Pellicer A, Petraglia F, Saridogan E
Ultrasound Obstet Gynecol 2018 Jan;51(1):101-109. doi: 10.1002/uog.18923. PMID: 29024135
Practice Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org; Practice Committee of the American Society for Reproductive Medicine
Fertil Steril 2016 Sep 1;106(3):530-40. Epub 2016 May 25 doi: 10.1016/j.fertnstert.2016.05.014. PMID: 27235766
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Recent systematic reviews

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
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
Payne KS, Mazur DJ, Hotaling JM, Pastuszak AW
J Urol 2019 Oct;202(4):674-681. Epub 2019 Sep 6 doi: 10.1097/JU.0000000000000248. PMID: 30916627Free PMC Article
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
Veale D, Miles S, Bramley S, Muir G, Hodsoll J
BJU Int 2015 Jun;115(6):978-86. Epub 2015 Mar 2 doi: 10.1111/bju.13010. PMID: 25487360

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