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46,XX disorder of sex development-anorectal anomalies syndrome

MedGen UID:
1382292
Concept ID:
C4518078
Disease or Syndrome
Synonyms: 46,XX disorder of sex development with anorectal anomalies syndrome; Female pseudohermaphroditism with anorectal anomalies syndrome; female pseudohermaphroditism-anorectal anomalies syndrome
SNOMED CT: 46,XX disorder of sex development with anorectal anomalies syndrome (733622000); Female pseudohermaphroditism with anorectal anomalies syndrome (733622000)
 
Monarch Initiative: MONDO:0017573
Orphanet: ORPHA2973

Definition

A rare developmental defect during embryogenesis syndrome, with characteristics of normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), mullerian duct anomalies (for example complete absence of the uterus and vagina, bicornuate uterus) and imperforate anus. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XX disorder of sex development-anorectal anomalies syndrome

Professional guidelines

PubMed

Miao Y, Wen J, Huang L, Wu J, Zhao Z
Biomed Res Int 2018;2018:2369430. Epub 2018 Mar 12 doi: 10.1155/2018/2369430. PMID: 29721502Free PMC Article
Committee on Adolescent Health Care
Obstet Gynecol 2018 Jan;131(1):e35-e42. doi: 10.1097/AOG.0000000000002458. PMID: 29266078
Nakhal RS, Creighton SM
J Pediatr Adolesc Gynecol 2012 Dec;25(6):352-7. Epub 2011 Aug 27 doi: 10.1016/j.jpag.2011.06.003. PMID: 21872517

Recent clinical studies

Etiology

Herlin MK
Front Endocrinol (Lausanne) 2024;15:1368990. Epub 2024 Apr 18 doi: 10.3389/fendo.2024.1368990. PMID: 38699388Free PMC Article
Chen N, Song S, Bao X, Zhu L
Front Med 2022 Dec;16(6):859-872. Epub 2022 Dec 23 doi: 10.1007/s11684-022-0969-3. PMID: 36562950
Nakhal RS, Creighton SM
J Pediatr Adolesc Gynecol 2012 Dec;25(6):352-7. Epub 2011 Aug 27 doi: 10.1016/j.jpag.2011.06.003. PMID: 21872517
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Diagnosis

Chen N, Song S, Bao X, Zhu L
Front Med 2022 Dec;16(6):859-872. Epub 2022 Dec 23 doi: 10.1007/s11684-022-0969-3. PMID: 36562950
Wu CQ, Childress KJ, Traore EJ, Smith EA
Urology 2021 May;151:98-106. Epub 2020 May 6 doi: 10.1016/j.urology.2020.04.088. PMID: 32387292
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
Miao Y, Wen J, Huang L, Wu J, Zhao Z
Biomed Res Int 2018;2018:2369430. Epub 2018 Mar 12 doi: 10.1155/2018/2369430. PMID: 29721502Free PMC Article
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Therapy

HadaviBavili P, İlçioğlu K, Hamlacı Başkaya Y
J Minim Invasive Gynecol 2023 Sep;30(9):705-715. Epub 2023 Jun 2 doi: 10.1016/j.jmig.2023.05.014. PMID: 37271411
Brännström M, Belfort MA, Ayoubi JM
Curr Opin Organ Transplant 2021 Dec 1;26(6):616-626. doi: 10.1097/MOT.0000000000000936. PMID: 34636769
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
Callens N, De Cuypere G, De Sutter P, Monstrey S, Weyers S, Hoebeke P, Cools M
Hum Reprod Update 2014 Sep-Oct;20(5):775-801. Epub 2014 Jun 3 doi: 10.1093/humupd/dmu024. PMID: 24899229
McQuillan SK, Grover SR
Int Urogynecol J 2014 Oct;25(10):1313-20. Epub 2014 Feb 15 doi: 10.1007/s00192-013-2316-3. PMID: 24531406

Prognosis

Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E
Eur J Hum Genet 2023 Oct;31(10):1117-1124. Epub 2023 Jul 27 doi: 10.1038/s41431-023-01434-5. PMID: 37500725Free PMC Article
Chu C, Li L, Li S, Zhou Q, Zheng P, Zhang YD, Duan AH, Lu D, Wu YM
Hum Genomics 2022 Mar 31;16(1):10. doi: 10.1186/s40246-022-00385-0. PMID: 35361250Free PMC Article
Herlin M, Bjørn AM, Rasmussen M, Trolle B, Petersen MB
Hum Reprod 2016 Oct;31(10):2384-90. Epub 2016 Sep 8 doi: 10.1093/humrep/dew220. PMID: 27609979
Mendoza N, Motos MA
Gynecol Endocrinol 2013 Jan;29(1):1-5. Epub 2012 Jul 20 doi: 10.3109/09513590.2012.705378. PMID: 22812659
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Clinical prediction guides

Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E
Eur J Hum Genet 2023 Oct;31(10):1117-1124. Epub 2023 Jul 27 doi: 10.1038/s41431-023-01434-5. PMID: 37500725Free PMC Article
HadaviBavili P, İlçioğlu K, Hamlacı Başkaya Y
J Minim Invasive Gynecol 2023 Sep;30(9):705-715. Epub 2023 Jun 2 doi: 10.1016/j.jmig.2023.05.014. PMID: 37271411
Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, Kang J, Ye Y, Wang Y, Koch A, Zhang Y, Qin C, Bonilla X, Borel C, Rall K, Chen Z, Jhangiani S, Niu Y, Li X, Qiu G, Zhang S, Luo G, Wu Z, Bacopoulou F, Deligeoroglou E, Zhang TJ, Rosenberg C, Gibbs RA, Dietrich JE, Dimas AS, Liu P, Antonarakis SE, Brucker SY, Posey JE, Lupski JR, Wu N, Zhu L; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) Study Group
Genet Med 2022 Nov;24(11):2262-2273. Epub 2022 Sep 16 doi: 10.1016/j.gim.2022.08.012. PMID: 36112137
McQuillan SK, Grover SR
Int Urogynecol J 2014 Oct;25(10):1313-20. Epub 2014 Feb 15 doi: 10.1007/s00192-013-2316-3. PMID: 24531406
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567

Recent systematic reviews

Martens L, Tannenbaum L, Van Kuijk SMJ, Notten KJB, Kluivers KB
Fertil Steril 2024 Apr;121(4):679-692. Epub 2023 Dec 15 doi: 10.1016/j.fertnstert.2023.12.015. PMID: 38104886
Dube R, Kar SS, Jhancy M, George BT
Int J Mol Sci 2023 Dec 21;25(1) doi: 10.3390/ijms25010120. PMID: 38203291Free PMC Article
HadaviBavili P, İlçioğlu K, Hamlacı Başkaya Y
J Minim Invasive Gynecol 2023 Sep;30(9):705-715. Epub 2023 Jun 2 doi: 10.1016/j.jmig.2023.05.014. PMID: 37271411
Friedler S, Grin L, Liberti G, Saar-Ryss B, Rabinson Y, Meltzer S
Reprod Biomed Online 2016 Jan;32(1):54-61. Epub 2015 Sep 25 doi: 10.1016/j.rbmo.2015.09.006. PMID: 26626805
McQuillan SK, Grover SR
Int Urogynecol J 2014 Oct;25(10):1313-20. Epub 2014 Feb 15 doi: 10.1007/s00192-013-2316-3. PMID: 24531406

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