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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.
See: This record
Unknown inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Primary amenorrhea
MedGen UID:
115918
•Concept ID:
C0232939
•
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
See: Feature record | Search on this feature
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
See: Feature record | Search on this feature
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.
See: Search on this feature
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.
See: Feature record | Search on this feature
Short mandibular condyles
MedGen UID:
870680
•Concept ID:
C4025134
•
Anatomical Abnormality
See: Feature record | Search on this feature
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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

First-Line Therapy for Vaginal Atresia. Conservative Treatment vs Surgical Techniques: Quandaries Looking at Numbers.
Lucchetti MC, Tassi A
J Pediatr Adolesc Gynecol 2022 Aug;35(4):426-428. doi: 10.1016/j.jpag.2022.01.011. PMID: 35842237
Clinical Features and Management of Endometriosis among Patients with MRKH and Functional Uterine Remnants.
Tian W, Chen N, Liang Z, Song S, Wang Y, Ye Y, Duan J, Zhu L
Gynecol Obstet Invest 2021;86(6):518-524. Epub 2021 Nov 4 doi: 10.1159/000520593. PMID: 34736265
Diagnosis and Management of Ovarian Tumor in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome.
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

Recent clinical studies

Etiology

Update on Mayer-Rokitansky-Küster-Hauser syndrome.
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
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
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
Implications of Ehlers-Danlos Syndrome in a Patient With Mayer-Rokitansky-Küster-Hauser Syndrome.
Brander EPA, Dietrich JE
J Pediatr Adolesc Gynecol 2021 Dec;34(6):890-892. Epub 2021 Jun 11 doi: 10.1016/j.jpag.2021.06.002. PMID: 34119661
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L
Am J Hum Genet 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. PMID: 33434492Free PMC Article
A review of trisomy X (47,XXX).
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

Update on Mayer-Rokitansky-Küster-Hauser syndrome.
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
Uterine Transplantation: Recipient Patient Populations.
Chung RK, Salari S, Findley J, Richards EG, Flyckt RLR
Clin Obstet Gynecol 2022 Mar 1;65(1):15-23. doi: 10.1097/GRF.0000000000000672. PMID: 35045021
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
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
Mayer-Rokitansky-Kuster-Hauser Syndrome.
Adil R, Qayyum A
J Ayub Med Coll Abbottabad 2013 Jan-Jun;25(1-2):208-9. PMID: 25098098
A review of trisomy X (47,XXX).
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

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
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
Sexual function and quality of life after the creation of a neovagina in women with Mayer-Rokitansky-Küster-Hauser syndrome: comparison of vaginal dilation and surgical procedures.
Kang J, Chen N, Song S, Zhang Y, Ma C, Ma Y, Zhu L
Fertil Steril 2020 May;113(5):1024-1031. doi: 10.1016/j.fertnstert.2020.01.017. PMID: 32386614
Urogynecological and Sexual Functions after Vecchietti Reconstructive Surgery.
Adamiak-Godlewska A, Skorupska K, Rechberger T, Romanek-Piva K, Miotła P
Biomed Res Int 2019;2019:2360185. Epub 2019 Feb 25 doi: 10.1155/2019/2360185. PMID: 30931323Free PMC Article
Livebirth after uterus transplantation.
Brännström M, Johannesson L, Bokström H, Kvarnström N, Mölne J, Dahm-Kähler P, Enskog A, Milenkovic M, Ekberg J, Diaz-Garcia C, Gäbel M, Hanafy A, Hagberg H, Olausson M, Nilsson L
Lancet 2015 Feb 14;385(9968):607-616. Epub 2014 Oct 6 doi: 10.1016/S0140-6736(14)61728-1. PMID: 25301505
Systematic review of sexual function and satisfaction following the management of vaginal agenesis.
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

Comparison of the modified laparoscopic Vecchietti and Davydov colpoplasty techniques in Mayer-Rokitansky-Küster-Hauser syndrome: A long-term follow-up analysis.
Yang X, Zhu L, Wang YJ, Tong B, Zhong S, Yang C, Liang J, Jin H, Xie Z
J Obstet Gynaecol Res 2022 Jul;48(7):1930-1937. Epub 2022 Apr 23 doi: 10.1111/jog.15262. PMID: 35460152
Oocyte Retrieval during Laparoscopic Vaginoplasty to Reduce Invasiveness in the Treatment of Mayer-Rokitansky-Küster-Hauser Syndrome.
Candiani M, Vanni VS, Papaleo E, Delprato D, Tandoi I, Gervasio V, Parma M, Corti L, Girardelli S, Fedele L
J Minim Invasive Gynecol 2020 Jan;27(1):74-79. Epub 2019 May 23 doi: 10.1016/j.jmig.2019.02.023. PMID: 31129299
Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Androgen insensitivity syndrome.
Mendoza N, Motos MA
Gynecol Endocrinol 2013 Jan;29(1):1-5. Epub 2012 Jul 20 doi: 10.3109/09513590.2012.705378. PMID: 22812659
A review of trisomy X (47,XXX).
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

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
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
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L
Am J Hum Genet 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. PMID: 33434492Free PMC Article
Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.
Eggermann T, Ledig S, Begemann M, Elbracht M, Kurth I, Wieacker P
Mol Genet Genomic Med 2018 Nov;6(6):1225-1228. Epub 2018 Aug 11 doi: 10.1002/mgg3.426. PMID: 30099855Free PMC Article
Livebirth after uterus transplantation.
Brännström M, Johannesson L, Bokström H, Kvarnström N, Mölne J, Dahm-Kähler P, Enskog A, Milenkovic M, Ekberg J, Diaz-Garcia C, Gäbel M, Hanafy A, Hagberg H, Olausson M, Nilsson L
Lancet 2015 Feb 14;385(9968):607-616. Epub 2014 Oct 6 doi: 10.1016/S0140-6736(14)61728-1. PMID: 25301505
Systematic review of sexual function and satisfaction following the management of vaginal agenesis.
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

Recent systematic reviews

Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.
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
Evaluation of Sexual Function Outcomes in Patients with Rokitansky Syndrome: A Systematic Review and Meta-analysis.
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
Sexual satisfaction in patients with Mayer-Rokitansky-Küster-Hauser syndrome after surgical and non-surgical techniques: a systematic review.
Dabaghi S, Zandi M, Ilkhani M
Int Urogynecol J 2019 Mar;30(3):353-362. Epub 2019 Jan 5 doi: 10.1007/s00192-018-3854-5. PMID: 30612182
Treatment management during the adolescent transition period of girls and young women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS): a systematic literature review.
Wagner A, Brucker SY, Ueding E, Gröber-Grätz D, Simoes E, Rall K, Kronenthaler A, Schäffeler N, Rieger MA
Orphanet J Rare Dis 2016 Nov 16;11(1):152. doi: 10.1186/s13023-016-0536-6. PMID: 27852280Free PMC Article
Systematic review of sexual function and satisfaction following the management of vaginal agenesis.
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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