Abstract
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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
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.
American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Arlington, VA: American Psychiatric Association; 2013.
Meyer-Bahlburg HF. Sex steroids and variants of gender identity. Endocrinol Metab Clin N Am. 2013;42(3):435–52.
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.
Hsieh S, Leininger J. Resource list: clinical care programs for gender-nonconforming children and adolescents. Pediatr Ann. 2014;43(6):238–44.
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.
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.
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.
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.
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.
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.
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.
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.
Olson KR, Durwood L, DeMeules M, McLaughlin KA. Health of transgender children who are supported in their identities. Pediatrics. 2016;137(3):e20153223.
Ehrensaft D. Gender born, gender made. New York: The Experiment; 2011.
Brill S, Pepper R. The transgender child. San Francisco, CA: Cleis Press; 2008.
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.
Carr J. Be who you are! AuthorHouse: Bloomington, IN; 2010.
Hall JG, Gilchrist DM. Turner syndrome and its variants. Pediatr Clin N Am. 1990;37(6):1421–40.
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.
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.
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.
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.
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.
Reiner WG. Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J Pediatr Endocrinol Metab. 2005;18(6):549–53.
Devlin L, Morrison PJ. Mosaic down’s syndrome prevalence in a complete population study. Arch Dis Child. 2004;89(12):1177–8.
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.
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.
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG, part of Springer Nature
About this chapter
Cite this chapter
Chen, D., Finlayson, C.A., Leeth, E., Yerkes, E.B., Johnson, E.K. (2018). “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. In: Janssen, A., Leibowitz, S. (eds) Affirmative Mental Health Care for Transgender and Gender Diverse Youth. Springer, Cham. https://doi.org/10.1007/978-3-319-78307-9_6
Download citation
DOI: https://doi.org/10.1007/978-3-319-78307-9_6
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-78306-2
Online ISBN: 978-3-319-78307-9
eBook Packages: MedicineMedicine (R0)