“I’m Here to Get Taller and Because I Want to Be a Boy”: A Case of Down-Turner Mosaicism in a Prepubescent Gender-Nonconforming Child

  • Diane ChenEmail author
  • Courtney A. Finlayson
  • Elizabeth Leeth
  • Elizabeth B. Yerkes
  • Emilie K. Johnson


Youth with differences/disorders of sex development (DSD) exhibit higher rates of gender dysphoria (GD) compared to the general population, though rates vary widely as a function of syndrome, syndrome severity, and initial gender assignment. Classical Turner syndrome is classified as a sex chromosome DSD; it is a genetic condition characterized by X-chromosome monosomy, short stature, complete gonadal dysgenesis, and female typical external genitalia. Approximately 50% of all females with Turner syndrome have some type of mosaicism, and approximately 6% have mosaic 45,X/46,XY with as high as 12% having some Y chromosome material present. Despite falling under the DSD classification, neither classical Turner syndrome nor Turner syndrome with Y chromosome mosaicism has been reported in the literature to be associated with GD. Here we describe a prepubescent gender-nonconforming birth-assigned female whose parents initially presented for consultation regarding gender nonconformity. Subsequent evaluation for short stature revealed 45,X/47,XY + 21 Down-Turner mosaic karyotype. To our knowledge, our patient is the first with Down-Turner mosaicism with phenotypic female genitalia and among the first reported cases of GD with comorbid Turner syndrome with Y chromosome mosaicism.


Gender dysphoria Gender nonconformity Gender-nonconforming behavior Turner mosaicism Turner with Y chromosome mosaicism Disorders of sex development DSD Down-Turner mosaicism 


  1. 1.
    Lee PA, Houk CP, Ahmed SF, Hughes IA. International consensus conference on intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118(2):e488–500.CrossRefPubMedGoogle Scholar
  2. 2.
    American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Arlington, VA: American Psychiatric Association; 2013.CrossRefGoogle Scholar
  3. 3.
    Meyer-Bahlburg HF. Sex steroids and variants of gender identity. Endocrinol Metab Clin N Am. 2013;42(3):435–52.CrossRefGoogle Scholar
  4. 4.
    Chen D, Hidalgo MA, Leibowitz S, Leininger J, Simons L, Finlayson C, et al. Multidisciplinary care for gender-diverse youth: a narrative review and unique model of gender-affirming care. Transgender Health. July 2016;1(1):117–23.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Hsieh S, Leininger J. Resource list: clinical care programs for gender-nonconforming children and adolescents. Pediatr Ann. 2014;43(6):238–44.CrossRefPubMedGoogle Scholar
  6. 6.
    Drescher J, Byne W. Gender dysphoric/gender variant (GD/GV) children and adolescents: summarizing what we know and what we have yet to learn. J Homosex. 2012;59(3):501–10.CrossRefPubMedGoogle Scholar
  7. 7.
    Steensma TD, Biemond R, de Boer F, Cohen-Kettenis PT. Desisting and persisting gender dysphoria after childhood: a qualitative follow-up study. Clin Child Psychol Psychiatry. 2011;16(4):499–516.CrossRefPubMedGoogle Scholar
  8. 8.
    Steensma TD, McGuire JK, Kreukels BP, Beekman AJ, Cohen-Kettenis PT. Factors associated with desistence and persistence of childhood gender dysphoria: a quantitative follow-up study. J Am Acad Child Adolesc Psychiatry. 2013;52(6):582–90.CrossRefPubMedGoogle Scholar
  9. 9.
    Zucker KJ, Wood H, Singh D, Bradley SJ. A developmental, biopsychosocial model for the treatment of children with gender identity disorder. J Homosex. 2012;59(3):369–97.CrossRefPubMedGoogle Scholar
  10. 10.
    Hidalgo MA, Ehrensaft D, Tishelman AC, Clark LF, Garofalo R, Rosenthal SM, et al. The gender affirmative model: what we know and what we aim to learn. Hum Dev. 2013;56(5):285–90.CrossRefGoogle Scholar
  11. 11.
    de Vries AL, Cohen-Kettenis PT. Clinical management of gender dysphoria in children and adolescents: the Dutch approach. J Homosex. 2012;59(3):301–20.CrossRefPubMedGoogle Scholar
  12. 12.
    Edwards-Leeper L, Leibowitz S, Sangganjanavanich VF. Affirmative practice with transgender and gender nonconforming youth: expanding the model. Psychol Sex Orientat Gender Diversity. 2016;3(2):165–72.CrossRefGoogle Scholar
  13. 13.
    Ryan C, Russell ST, Huebner D, Diaz R, Sanchez J. Family acceptance in adolescence and the health of LGBT young adults. J Child Adolesc Psychiatr Nurs. 2010;23(4):205–13.CrossRefPubMedGoogle Scholar
  14. 14.
    Olson KR, Durwood L, DeMeules M, McLaughlin KA. Health of transgender children who are supported in their identities. Pediatrics. 2016;137(3):e20153223.CrossRefPubMedPubMedCentralGoogle Scholar
  15. 15.
    Ehrensaft D. Gender born, gender made. New York: The Experiment; 2011.Google Scholar
  16. 16.
    Brill S, Pepper R. The transgender child. San Francisco, CA: Cleis Press; 2008.Google Scholar
  17. 17.
    Bondy CA. Care of girls and women with turner syndrome: a guideline of the turner syndrome study group. J Clin Endocrinol Metab. 2007;92(1):10–25.CrossRefPubMedGoogle Scholar
  18. 18.
    Carr J. Be who you are! AuthorHouse: Bloomington, IN; 2010.Google Scholar
  19. 19.
    Hall JG, Gilchrist DM. Turner syndrome and its variants. Pediatr Clin N Am. 1990;37(6):1421–40.CrossRefGoogle Scholar
  20. 20.
    Freriks K, Timmers HJ, Netea-Maier RT, Beerendonk CC, Otten BJ, van Alfen-van der Velden JA, et al. Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with turner syndrome. Eur J Med Genet. 2013;56(9):497–501.CrossRefPubMedGoogle Scholar
  21. 21.
    Ackermann A, Bamba V. Current controversies in turner syndrome: genetic testing, assisted reproduction, and cardiovascular risks. J Clin Transl Endocrinol. 2014;1(3):61–5.CrossRefPubMedPubMedCentralGoogle Scholar
  22. 22.
    van der Zwan YG, Biermann K, Wolffenbuttel KP, Cools M, Looijenga LH. Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model. Eur Urol. 2015;67(4):692–701.CrossRefPubMedGoogle Scholar
  23. 23.
    Szarras-Czapnik M, Lew-Starowicz Z, Zucker KJ. A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis. J Pediatr Adolesc Gynecol. 2007;20(6):333–8.CrossRefPubMedGoogle Scholar
  24. 24.
    Furtado PS, Moraes F, Lago R, Barros LO, Toralles MB, Barroso U Jr. Gender dysphoria associated with disorders of sex development. Nat Rev Urol. 2012;9(11):620–7.CrossRefPubMedGoogle Scholar
  25. 25.
    Reiner WG. Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J Pediatr Endocrinol Metab. 2005;18(6):549–53.CrossRefPubMedPubMedCentralGoogle Scholar
  26. 26.
    Devlin L, Morrison PJ. Mosaic down’s syndrome prevalence in a complete population study. Arch Dis Child. 2004;89(12):1177–8.CrossRefPubMedPubMedCentralGoogle Scholar
  27. 27.
    Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, Lee JS, et al. Down-turner syndrome (45,X/47,XY,+21): case report and review. Korean J Lab Med. 2010;30(2):195–200.CrossRefPubMedGoogle Scholar
  28. 28.
    Van Buggenhout GJ, Hamel BC, Trommelen JC, Mieloo H, Smeets DF. Down-turner syndrome: case report and review. J Med Genet. 1994;31(10):807–10.CrossRefPubMedPubMedCentralGoogle Scholar
  29. 29.
    Ocal G, Berberoğlu M, Siklar Z, Bilir P. Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. Exp Clin Endocrinol Diabetes. 2009;117(6):301–4.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Diane Chen
    • 1
    • 2
    • 3
    Email author
  • Courtney A. Finlayson
    • 3
    • 4
    • 5
  • Elizabeth Leeth
    • 6
  • Elizabeth B. Yerkes
    • 7
    • 8
  • Emilie K. Johnson
    • 7
    • 8
  1. 1.Division of Adolescent Medicine, Department of Child and Adolescent PsychiatryAnn and Robert H. Lurie Children’s Hospital of ChicagoChicagoUSA
  2. 2.Department of Psychiatry and Behavioral SciencesNorthwestern University Feinberg School of MedicineChicagoUSA
  3. 3.Department of PediatricsNorthwestern University Feinberg School of MedicineChicagoUSA
  4. 4.Division of EndocrinologyNorthwestern University Feinberg School of MedicineChicagoUSA
  5. 5.Department of PediatricsAnn and Robert H. Lurie Children’s Hospital of ChicagoChicagoUSA
  6. 6.Departments of Pathology and PediatricsAnn and Robert H. Lurie Children’s Hospital of ChicagoChicagoUSA
  7. 7.Division of UrologyAnn and Robert H. Lurie Children’s Hospital of ChicagoChicagoUSA
  8. 8.Departments of Urology and SurgeryCenter for Healthcare Studies, Northwestern Feinberg School of MedicineChicagoUSA

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