U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormality of the female genitalia

MedGen UID:
869393
Concept ID:
C4023820
Anatomical Abnormality
HPO: HP:0010460

Definition

Abnormality of the female genital system. [from HPO]

Professional guidelines

PubMed

Ahmad A, Kumar M, Bhoi NR, Badruddeen, Akhtar J, Khan MI, Ajmal M, Ahmad M
J Basic Clin Physiol Pharmacol 2023 May 1;34(3):291-310. Epub 2023 Mar 30 doi: 10.1515/jbcpp-2022-0219. PMID: 36989026
Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
Marnach ML, Laughlin-Tommaso SK
Mayo Clin Proc 2019 Feb;94(2):326-335. doi: 10.1016/j.mayocp.2018.12.012. PMID: 30711128

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
Jacquinet A, Millar D, Lehman A
Am J Med Genet A 2016 Aug;170(8):2141-72. Epub 2016 Jun 8 doi: 10.1002/ajmg.a.37775. PMID: 27273803
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

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
Passos IMPE, Britto RL
Taiwan J Obstet Gynecol 2020 Mar;59(2):183-188. doi: 10.1016/j.tjog.2020.01.003. PMID: 32127135
van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Ljubicic ML, Busch AS, Juul A, Nordenström A, Sigurdsson J, Flück CE, Haamberg T, Graf S, Hannema SE, Wolffenbuttel KP, Hiort O, Ahmed SF, Cools M
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz142. PMID: 31665438
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

Vaidakis D, Papapanou M, Siristatidis CS
Cochrane Database Syst Rev 2024 Apr 29;4(4):CD013875. doi: 10.1002/14651858.CD013875.pub2. PMID: 38682756Free PMC Article
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
Bosteels J, van Wessel S, Weyers S, Broekmans FJ, D'Hooghe TM, Bongers MY, Mol BWJ
Cochrane Database Syst Rev 2018 Dec 5;12(12):CD009461. doi: 10.1002/14651858.CD009461.pub4. PMID: 30521679Free PMC Article
Jaslow CR
Obstet Gynecol Clin North Am 2014 Mar;41(1):57-86. doi: 10.1016/j.ogc.2013.10.002. PMID: 24491984

Prognosis

Alkhunaizi E, Albrecht JP, Aarabi M, Witchel SF, Wherrett D, Babul-Hirji R, Dupuis A, Chiniara L, Chater-Diehl E, Shago M, Shuman C, Rajkovic A, Yatsenko SA, Chitayat D
Am J Med Genet A 2024 Mar;194(3):e63451. Epub 2023 Oct 26 doi: 10.1002/ajmg.a.63451. PMID: 37882230
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
Bischoff A
Semin Pediatr Surg 2016 Apr;25(2):102-7. Epub 2015 Nov 11 doi: 10.1053/j.sempedsurg.2015.11.009. PMID: 26969234
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
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article

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
van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Ljubicic ML, Busch AS, Juul A, Nordenström A, Sigurdsson J, Flück CE, Haamberg T, Graf S, Hannema SE, Wolffenbuttel KP, Hiort O, Ahmed SF, Cools M
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz142. PMID: 31665438
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

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
Dasgupta R, Renaud E, Goldin AB, Baird R, Cameron DB, Arnold MA, Diefenbach KA, Gosain A, Grabowski J, Guner YS, Jancelewicz T, Kawaguchi A, Lal DR, Oyetunji TA, Ricca RL, Shelton J, Somme S, Williams RF, Downard CD
J Pediatr Surg 2018 Jul;53(7):1387-1391. Epub 2017 Nov 16 doi: 10.1016/j.jpedsurg.2017.10.053. PMID: 29153467
Irani M, Merhi Z
Fertil Steril 2014 Aug;102(2):460-468.e3. Epub 2014 Jun 3 doi: 10.1016/j.fertnstert.2014.04.046. PMID: 24933120
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

    Clinical resources

    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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...