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46,XX disorder of sex development-skeletal anomalies syndrome

MedGen UID:
341514
Concept ID:
C1849696
Disease or Syndrome
Synonym: Pseudohermaphroditism, female, with skeletal anomalies
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0009915
OMIM®: 264270
Orphanet: ORPHA2975

Definition

A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. [from ORDO]

Clinical features

From HPO
Clitoral hypertrophy
MedGen UID:
57848
Concept ID:
C0156394
Finding
Hypertrophy of the clitoris.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Ambiguous genitalia
MedGen UID:
78596
Concept ID:
C0266362
Congenital Abnormality
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale
Ulnar radial head dislocation
MedGen UID:
867259
Concept ID:
C4021619
Injury or Poisoning
A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Short mandibular condyles
MedGen UID:
870680
Concept ID:
C4025134
Anatomical Abnormality

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XX disorder of sex development-skeletal anomalies syndrome
Follow this link to review classifications for 46,XX disorder of sex development-skeletal anomalies syndrome in Orphanet.

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
Bombard DS 2nd, Mousa SA
Gynecol Endocrinol 2014 Sep;30(9):618-23. Epub 2014 Jun 20 doi: 10.3109/09513590.2014.927855. PMID: 24948340
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

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
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
Mouriquand PD, Gorduza DB, Gay CL, Meyer-Bahlburg HF, Baker L, Baskin LS, Bouvattier C, Braga LH, Caldamone AC, Duranteau L, El Ghoneimi A, Hensle TW, Hoebeke P, Kaefer M, Kalfa N, Kolon TF, Manzoni G, Mure PY, Nordenskjöld A, Pippi Salle JL, Poppas DP, Ransley PG, Rink RC, Rodrigo R, Sann L, Schober J, Sibai H, Wisniewski A, Wolffenbuttel KP, Lee P
J Pediatr Urol 2016 Jun;12(3):139-49. Epub 2016 Apr 9 doi: 10.1016/j.jpurol.2016.04.001. PMID: 27132944
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
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
Meena A, Daga MK, Dixit R
BMJ Case Rep 2016 May 20;2016 doi: 10.1136/bcr-2015-212634. PMID: 27207981Free PMC Article
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

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
Mikhael S, Dugar S, Morton M, Chorich LP, Tam KB, Lossie AC, Kim HG, Knight J, Taylor HS, Mukherjee S, Capra JA, Phillips JA 3rd, Friez M, Layman LC
Hum Genet 2021 Apr;140(4):667-680. Epub 2021 Jan 19 doi: 10.1007/s00439-020-02239-y. PMID: 33469725Free PMC Article
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
Brown J, Warne G
J Pediatr Endocrinol Metab 2005 Jan;18(1):3-23. doi: 10.1515/jpem.2005.18.1.3. PMID: 15679065

Clinical prediction guides

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
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
Poyrazoglu S, Darendeliler F, Ahmed SF, Hughes I, Bryce J, Jiang J, Rodie M, Hiort O, Hannema SE, Bertelloni S, Lisa L, Guran T, Cools M, Desloovere A, Claahsen-van der Grinten HL, Nordenstrom A, Holterhus PM, Kohler B, Niedziela M, Krone N
J Clin Endocrinol Metab 2017 Mar 1;102(3):1044-1050. doi: 10.1210/jc.2016-3460. PMID: 28359094
Mendoza N, Motos MA
Gynecol Endocrinol 2013 Jan;29(1):1-5. Epub 2012 Jul 20 doi: 10.3109/09513590.2012.705378. PMID: 22812659
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567

Recent systematic reviews

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
Facchin F, Francini F, Ravani S, Restelli E, Gramegna MG, Vercellini P, Aimi G
J Health Psychol 2021 Jan;26(1):26-39. Epub 2020 Jan 21 doi: 10.1177/1359105319901308. PMID: 31960723
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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