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45,X0/46,XY mosaicism

Monday 19 April 2010

Digital cases

- Case 76 : Mosaicism 46,XY/45,X0
- Case 114 : Mosaicism 46,XY/45,X0 - Mixed gonadal dysgenesis

Definition : The 45,X/46,XY mosaic karyotype is expressed by a spectrum of genital phenotypes, ranging from normal males through to ambiguous genitalia (mixed gonadal dysgenesis) and to normal females.


- mostly male phenotype

  • possible normal male phenotype (20708529)
  • hypospadias
  • undescended testis

- mixed gonadal dysgenesis (asymetrical disorders of sexual differentiation or asymetrical DSD)

  • unilateral streak gonad
  • unilateral streak gonad and controlateral testis (19159702)
  • undescended ’nonfunctional’ streak gonad

- mostly female phenotype

  • normal female
  • female with mild clitoral hypertrophy

- horseshoe kidney (18648333)

- cardiovascular anomalies

  • biscupid aortic valve (21130980)
  • ascending aorta aneurysm (21130980)
  • isolated left ventricular hypertrabeculation (LVHT) (or isolated left ventricular noncompaction) (19317306)
    • Left ventricular hypertrabeculation (LVHT), also known as noncompaction, has been previously reported in a female patient with Turner syndrome (TS) with X0-karyotype
    • LVHT can be associated with severe cardiomyopathy resulting in rhythm abnormalities and heart failure.

SRY status

The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS). Mutations in SRY are rare findings in patients with Y chromosome mosaicisms. Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45,X/46,XY karyotype and variants seems very unlikely. (20699606).

See also

- disorders of sexual differentiation (DSDs)

  • mixed gonadal dysgenesis (MGD) (asymetrical DSD)


- Pathogenetics of 45,X/46,XY gonadal mosaicism. Reddy KS, Sulcova V. Cytogenet Cell Genet. 1998;82(1-2):52-7. PMID: 9763660

Open access references

- A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient. Shahid M, Dhillon VS, Khalil HS, Haque S, Batra S, Husain SA, Looijenga LH. BMC Med Genet. 2010 Sep 19;11:131. PMID: 20849656 [Free]


- Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism. Cools M, Pleskacova J, Stoop H, Hoebeke P, Van Laecke E, Drop SL, Lebl J, Oosterhuis JW, Looijenga LH, Wolffenbuttel KP; Mosaicism Collaborative Group. J Clin Endocrinol Metab. 2011 Jul;96(7):E1171-80. PMID: 21508138

- The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants. Nishi MY, Costa EM, Oliveira SB, Mendonca BB, Domenice S. Horm Res Paediatr. 2011;75(1):26-31. PMID: 20699606

- Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. Bakoto N, Corman V, Legros JJ. Ann Endocrinol (Paris). 2010 Dec 3. PMID: 21130980

- Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad. Karatza A, Chrysis D, Stefanou EG, Mantagos S, Salakos C. J Pediatr Endocrinol Metab. 2009 Nov;22(11):1083-6. PMID: 20101895

- Accuracy of perinatal diagnosis of 45,X/46,XY mosaicism and electronic consultation of affected parents. Kibar Y, Frimberger D, Kropp BP, Reiner W. J Pediatr Urol. 2009 Aug;5(4):274-8. PMID: 19329364

- Isolated left ventricular hypertrabeculation/noncompaction in a Turner mosaic with male phenotype. Altenberger H, Stöllberger C, Finsterer J. Acta Cardiol. 2009 Feb;64(1):99-103. PMID: 19317306

- Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis. Mizuno K, Kojima Y, Kurokawa S, Mizuno H, Kohri K, Hayashi Y. J Pediatr Surg. 2009 Jan;44(1):e1-3. PMID: 19159702

- Short stature in a phenotypic male caused by mixed gonadal dysgenesis. Jacobsen CM, Cohen LE. Nat Clin Pract Endocrinol Metab. 2008 Sep;4(9):524-8. PMID: 18648333

- Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex. Tho SP, Jackson R, Kulharya AS, Reindollar RH, Layman LC, McDonough PG. Am J Med Genet A. 2007 Nov 1;143A(21):2616-22. PMID: 17935253

- High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis. Alvarez-Nava F, Puerta H, Soto M, Pineda L, Temponi A. Fertil Steril. 2008 Feb;89(2):458-60. PMID: 17531235

- An infant with a mosaic 45,X/46,X,psu dic(Y) (pter—>q11.2::q11.2—>pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads. Reddy KS, Sulcova V, Ho CK, Conner ED, Khurana A. Am J Med Genet. 1996 Dec 30;66(4):441-4. PMID: 8989464