**Author details**

Pierre Sinajon2,3, Riyana Babul-Hirji4 and David Chitayat1,2,4\*

1 Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada

2 The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada

3 Department of Pediatrics, Division of Genetics, University of Rochester Medical Center, United States

4 Division of Clinical Genetics and Metabolism, Departments of Pediatrics and Genetic Counselling, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

\*Address all correspondence to: david.chitayat@sinaihealth.ca

© 2021 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/ by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

**79**

*Approach to the Newborn with Disorders of Sex Development*

incidence study in Arhus, Denmark. Hum Genet. 1991;**87**(1):81-83

[9] Cameron-Pimblett A, La Rosa C, King TFJ, Davies MC, Conway GS. The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan. Clinical Endocrinology.

[10] Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME,

Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European Journal of Endocrinology. 2017;**177**(3):G1-g70

[11] Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. The Lancet Oncology.

[12] Flannigan R, Patel P, Paduch DA. Klinefelter Syndrome. The Effects of Early Androgen Therapy on

Competence and Behavioral Phenotype.

Sex Med Rev. 2018;**6**(4):595-606

[13] Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics. 1999;**104**(2 Pt 1):304-308

[14] Tho SP, Jackson R, Kulharya AS,

McDonough PG. Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex. Am J Med Genet A.

[15] Tosson H, Rose SR, Gartner LA.

45,X/46,XY karyotype. Eur J Pediatr.

Description of children with

Reindollar RH, Layman LC,

2007;143a(21):2616-22.

2012;171(3):521-9.

2017;**87**(5):532-538

2008;**9**(3):239-246

*DOI: http://dx.doi.org/10.5772/intechopen.94570*

[1] Hughes IA, Nihoul-Fékété C, Thomas B, Cohen-Kettenis PT. Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. Best Practice & Research. Clinical Endocrinology & Metabolism.

[2] Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Journal of Pediatric Urology.

[3] Rey R, Josso N, Racine C. Sexual Differentiation. In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, et al., editors. Endotext. South Dartmouth (MA): MDText.com, Inc. Copyright © 2000- 2020, MDText.com, Inc.; 2000.

[4] Ahmed SF, Bashamboo A, Lucas-Herald A, McElreavey K. Understanding the genetic aetiology in patients with XY DSD. British Medical Bulletin.

[5] Yao HH. The pathway to femaleness: current knowledge on embryonic development of the ovary. Molecular

[6] Zhao F, Franco HL, Rodriguez KF, Brown PR, Tsai MJ, Tsai SY, et al. Elimination of the male reproductive tract in the female embryo is promoted by COUP-TFII in mice. Science.

[7] Childs AJ, Cowan G, Kinnell HL, Anderson RA, Saunders PT. Retinoic Acid signalling and the control of meiotic entry in the human fetal gonad.

[8] Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year

and Cellular Endocrinology.

2005;**230**(1-2):87-93

2017;**357**(6352):717-720

PLoS One. 2011;**6**(6):e20249

**References**

2007;**21**(3):351-365

2006;**2**(3):148-162

2013;**106**:67-89

*Approach to the Newborn with Disorders of Sex Development DOI: http://dx.doi.org/10.5772/intechopen.94570*
