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45,X/46,XY mixed gonadal dysgenesis

MedGen UID:
963057
•Concept ID:
CN279762
•
Disease or Syndrome
Synonyms: 45,X/46,XY disorder of Sex development; 45,X/46,XY gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD; 45,X0/46,XY mixed gonadal dysgenesis; Mixed gonadal dysgenesis; XY/X0
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
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0015779
Orphanet: ORPHA1772

Definition

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV45,X/46,XY mixed gonadal dysgenesis

Professional guidelines

PubMed

Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.
Guzewicz L, Howell S, Crerand CE, Umbaugh H, Nokoff NJ, Barker J, Davis SM
Am J Med Genet A 2021 May;185(5):1437-1447. Epub 2021 Feb 22 doi: 10.1002/ajmg.a.62127. PMID: 33616298Free PMC Article
The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism.
Wu Q, Wang C, Shi H, Kong X, Ren S, Jiang M
Sex Dev 2017;11(2):64-69. Epub 2017 Feb 18 doi: 10.1159/000455260. PMID: 28214852
Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update.
Hsu LY
Prenat Diagn 1989 Jan;9(1):31-48. doi: 10.1002/pd.1970090106. PMID: 2664755

Recent clinical studies

Etiology

Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material.
Jiang JF, Xue W, Deng Y, Tian QJ, Sun AJ
Gynecol Endocrinol 2016;32(4):338-41. Epub 2015 Nov 26 doi: 10.3109/09513590.2015.1116509. PMID: 26608236
Atypical presentation and management dilemma of mixed gonadal dysgenesis.
McKnight KK, Bates GW Jr
Fertil Steril 2011 Jan;95(1):291.e7-9. Epub 2010 Jul 15 doi: 10.1016/j.fertnstert.2010.05.058. PMID: 20637459
Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum.
Siklar Z, Berberoğlu M, Adiyaman P, Salih M, Tükün A, Cetinkaya E, Aycan Z, Evliyaoğlu O, Ergur AT, Oçal G
Pediatr Endocrinol Rev 2007 Mar;4(3):210-7. PMID: 17551482

Diagnosis

Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material.
Jiang JF, Xue W, Deng Y, Tian QJ, Sun AJ
Gynecol Endocrinol 2016;32(4):338-41. Epub 2015 Nov 26 doi: 10.3109/09513590.2015.1116509. PMID: 26608236
Atypical presentation and management dilemma of mixed gonadal dysgenesis.
McKnight KK, Bates GW Jr
Fertil Steril 2011 Jan;95(1):291.e7-9. Epub 2010 Jul 15 doi: 10.1016/j.fertnstert.2010.05.058. PMID: 20637459
Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum.
Siklar Z, Berberoğlu M, Adiyaman P, Salih M, Tükün A, Cetinkaya E, Aycan Z, Evliyaoğlu O, Ergur AT, Oçal G
Pediatr Endocrinol Rev 2007 Mar;4(3):210-7. PMID: 17551482

Prognosis

Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum.
Siklar Z, Berberoğlu M, Adiyaman P, Salih M, Tükün A, Cetinkaya E, Aycan Z, Evliyaoğlu O, Ergur AT, Oçal G
Pediatr Endocrinol Rev 2007 Mar;4(3):210-7. PMID: 17551482

Clinical prediction guides

Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material.
Jiang JF, Xue W, Deng Y, Tian QJ, Sun AJ
Gynecol Endocrinol 2016;32(4):338-41. Epub 2015 Nov 26 doi: 10.3109/09513590.2015.1116509. PMID: 26608236

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