Skip to main content
Log in

Description of children with 45,X/46,XY karyotype

  • Original Paper
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optimal procedures for clinical evaluation, management, and follow-up of these children. Sixteen X/XY children were evaluated and managed at a single institution as part of standard clinical care as established at the time between 1969 and 2009. In January of 2005, we started retrospective record review of all X/XY children in combination with cohort follow-up (of those who had not reached adult height) until August of 2009. The study included review of clinical presentation, clinical characteristics, diagnostic measures, radiologic studies, karyotype studies, psycho-endocrinology evaluation, and growth-promoting treatments. There was no specific intervention. Phenotype reflected cell line distribution. The presence of 45,X cell line explains how X/XY children have abnormalities similar to girls with TS, while presence of Y chromosome explains why they have tomboyish behavior. In conclusion, these children require clinical evaluation similar to that performed in female children with TS, including cardiovascular, renal, endocrine, growth and development, autoimmune, psychological, and educational evaluation. Specific management needs to be tailored to the presence of Y chromosomal material.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Arnold AP (2004) Sex chromosomes and brain gender. Nature Rev Neurosci 5:701–708

    Article  CAS  Google Scholar 

  2. Bondy CA (2006) Care of female children and women with Turner syndrome: a guideline of the Turner syndrome study group. J Clin Endocrinol Metab 92:10–25

    Article  PubMed  Google Scholar 

  3. Chang HJ, Clark RD, Bachman H (1990) The phenotype of 45, X/46, XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Med Genet 46:156–167

    Google Scholar 

  4. Chung WC, De Vries GJ, Swaab DF (2002) Sexual differentiation of the bed nucleus of the stria terminalis in humans may extend into adulthood. J Neurosci 22:1027–1033

    PubMed  CAS  Google Scholar 

  5. Davidoff F, Federman DD (1973) Mixed gonadal dysgenesis. Pediatr 52:725–742

    CAS  Google Scholar 

  6. Forget H, Cohen H (1994) Life after birth: the influence of steroid hormone on cerebral structure and function is not fixed prenatally. Brain Cognition 26:243–248

    Article  CAS  Google Scholar 

  7. Hashimoto H, Maruyama H, Koshida R, Okuda N, Murayama K, Katsumi T, Watanabe K, Sato T (1997) Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45, X/46, X+ mar karyotype. Arch Dis Child 76:268–271

    Article  PubMed  CAS  Google Scholar 

  8. Josso N, Belville C, di Clemente N, Picard JY (2005) AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Reprod Update 11:351–356

    Article  PubMed  CAS  Google Scholar 

  9. Knudtzon J, Aarskog D (1987) 45, X/46, XY mosaicism: a clinical review and report of ten cases. Eur J Pediatr 146:266–271

    Article  PubMed  CAS  Google Scholar 

  10. Lee PA, Houk CP, Ahmed SF, Hughes IA (2006) Consensus statement on management of intersex disorders. International consensus conference on intersex disorders. Pediatr 118e:488–500

    Article  Google Scholar 

  11. Lippe BM, Saenger PH (2002) Turner syndrome. Sperling pediatric endocrinology, 2nd edn. Saunders, Philadelphia; pp 519–564

  12. Nugent BM, McCarthy MM (2011) Epigenetic underpinnings of developmental sex differences in the brain. Neuroendocrinol 93:150–158

    Article  CAS  Google Scholar 

  13. Papenhausen PR, Mueller OT, Berru B, Salazar J, Tedeso TA (1991) Cell line segregation in 45, X/46, XY mosaic child with asymmetric leg growth. Clinical Genetics 40:237–241

    Article  PubMed  CAS  Google Scholar 

  14. Reiner WG, Gearhart JP (2004) Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. New Engl J Med 350:333–341

    Article  PubMed  CAS  Google Scholar 

  15. Reiner W (2005) Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J Pediatr Endocrinol Metab 18:549–553

    Article  PubMed  Google Scholar 

  16. Rosenberg C, Frota-Pessoa O, Vianna-Morgante AM, Chu TU (1987) Phenotypic spectrum of 45, X/46, XY individuals. Am J Med Genet 27:553–559

    Article  PubMed  CAS  Google Scholar 

  17. Styne DM (2002) The testes. Sperling pediatric endocrinology, 2nd edn. Saunders, Philadelphia. pp 565–628

  18. Sugarman ID, Crolla SA, Malone PS (1994) Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. Clini Genet 46:313–31519

    Article  CAS  Google Scholar 

  19. Sybert VP (1998) Cardiovascular malformations and complications in Turner syndrome. Pediatrics 101e:11, http://www.pediatrics.org/cgi/content/full/101/1/e11

    Article  Google Scholar 

  20. Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL (1999) 45, X/46, XY Mosaicism: report of 27 cases. Pediatrics 104:304–308

    Article  PubMed  CAS  Google Scholar 

  21. Tosson H, Rose SR, Gartner L (2010) Children with 45, X/46, XY karyotype from birth to adult height. Horm Res Paediatr 74:190–200

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgements

The authors especially thank Margaret McGillivray, MD; Mary Voorhees, MD; Barbara Shine, RN; and Wanda Musial, RN, PNP, for their care of these children and thorough, detailed record documentation. We appreciate the contributions of Dr. Thomas Mazur and Dr. David Sandberg, psychoendocrinologists.

Conflict of interest

There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported. This research did not receive any specific grant from any funding agency in the public, commercial, or not-for-profit sector. The authors have nothing to declare.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Hanan Tosson.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tosson, H., Rose, S.R. & Gartner, L.A. Description of children with 45,X/46,XY karyotype. Eur J Pediatr 171, 521–529 (2012). https://doi.org/10.1007/s00431-011-1600-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00431-011-1600-9

Keywords

Navigation