U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital malformation of genital organs

MedGen UID:
510625
Concept ID:
C0158687
Congenital Abnormality
Synonyms: Congenital anomaly of genital organ; Congenital deformity of genital organ; Congenital genital organ anomalies
SNOMED CT: Congenital deformity of genital organ (204821009); Congenital anomaly of genital organ (204821009); Congenital malformation of genital organs (204821009); Congenital genital organ anomalies (204821009)

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
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article
Klysik M
Pathol Res Pract 2008;204(2):77-88. doi: 10.1016/j.prp.2007.10.013. PMID: 18312782

Recent clinical studies

Etiology

Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
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
Rangecroft L; British Association of Paediatric Surgeons Working Party on the Surgical Management of Children Born With Ambiguous Genitalia
Arch Dis Child 2003 Sep;88(9):799-801. doi: 10.1136/adc.88.9.799. PMID: 12937103Free PMC Article
Giwercman A, Skakkebaek NE
Int J Androl 1992 Oct;15(5):373-5. doi: 10.1111/j.1365-2605.1992.tb01351.x. PMID: 1428195
Barnes JC, Smith WL
Radiology 1978 Feb;126(2):445-9. doi: 10.1148/126.2.445. PMID: 622495

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
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):396-402. Epub 2014 Sep 11 doi: 10.1016/j.jpag.2014.09.001. PMID: 25438708
Baldinger L, Mudegowdar A, Shukla AR
Clin Perinatol 2014 Sep;41(3):709-24. Epub 2014 Jul 23 doi: 10.1016/j.clp.2014.05.016. PMID: 25155737
Edmonds DK
Curr Opin Obstet Gynecol 2013 Oct;25(5):382-7. doi: 10.1097/GCO.0b013e328363d67f. PMID: 24018875

Therapy

Ludwin A, Trolice MP, Bhagavath B, Lindheim SR
Fertil Steril 2021 May;115(5):1140-1142. Epub 2021 Apr 3 doi: 10.1016/j.fertnstert.2021.03.010. PMID: 33823997
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
Speiser PW, White PC
N Engl J Med 2003 Aug 21;349(8):776-88. doi: 10.1056/NEJMra021561. PMID: 12930931
Reckler JM, Rose LI, Harrison JH
J Urol 1975 Jun;113(6):869-70. doi: 10.1016/s0022-5347(17)59602-0. PMID: 1152164

Prognosis

Baldinger L, Mudegowdar A, Shukla AR
Clin Perinatol 2014 Sep;41(3):709-24. Epub 2014 Jul 23 doi: 10.1016/j.clp.2014.05.016. PMID: 25155737
Reichman DE, Laufer MR
Best Pract Res Clin Obstet Gynaecol 2010 Apr;24(2):193-208. Epub 2009 Nov 7 doi: 10.1016/j.bpobgyn.2009.09.006. PMID: 19897423
Bhatia S, Holla RG
Indian Pediatr 2005 Apr;42(4):373-5. PMID: 15876600
Bernstein PS, Divon MY
Clin Obstet Gynecol 1997 Dec;40(4):723-9. doi: 10.1097/00003081-199712000-00006. PMID: 9429786
McCarthy GT, West CM
Dev Med Child Neurol 1977 Oct;19(5):659-63. doi: 10.1111/j.1469-8749.1977.tb07999.x. PMID: 913905

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
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
Cetin C, Soysal C, Khatib G, Urunsak IF, Cetin T
J Obstet Gynaecol Res 2016 Aug;42(8):1013-5. Epub 2016 Apr 20 doi: 10.1111/jog.13010. PMID: 27094100
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M
Pediatr Dev Pathol 2015 Jul-Aug;18(4):259-78. Epub 2014 Aug 8 doi: 10.2350/14-04-1471-PB.1. PMID: 25105336
Bargy F, Laude F, Barbet JP, Houette A
Surg Radiol Anat 1989;11(2):103-7. doi: 10.1007/BF02096464. PMID: 2669189

Recent systematic reviews

Carrera M, Pérez Millan F, Alcázar JL, Alonso L, Caballero M, Carugno J, Dominguez JA, Moratalla E
J Minim Invasive Gynecol 2022 Apr;29(4):465-475. Epub 2021 Oct 11 doi: 10.1016/j.jmig.2021.10.001. PMID: 34648934
Rosen A, Chan WV, Matelski J, Walsh C, Murji A
Fertil Steril 2021 Oct;116(4):1107-1116. Epub 2021 Jun 12 doi: 10.1016/j.fertnstert.2021.05.095. PMID: 34130801
van Dijk MM, Kolte AM, Limpens J, Kirk E, Quenby S, van Wely M, Goddijn M
Hum Reprod Update 2020 Apr 15;26(3):356-367. doi: 10.1093/humupd/dmz048. PMID: 32103270Free PMC Article
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):396-402. Epub 2014 Sep 11 doi: 10.1016/j.jpag.2014.09.001. PMID: 25438708
Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, Janssen OE, Legro RS, Norman RJ, Taylor AE, Witchel SF; Task Force on the Phenotype of the Polycystic Ovary Syndrome of The Androgen Excess and PCOS Society
Fertil Steril 2009 Feb;91(2):456-88. Epub 2008 Oct 23 doi: 10.1016/j.fertnstert.2008.06.035. PMID: 18950759

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...