DOI: https://doi.org/10.14710/dimj.v5i2.24332

Gender Identity and Phenotypic Variation of Sex Chromosome Disorders: A Study at Center for Disorder of Sex Development in Indonesia

*Putri Azalia  -  Graduate School of Biomedical Sciences Faculty of Medicine Diponegoro University Semarang, Indonesia, Indonesia
Achmad Zulfa Juniarto scopus  -  Division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University Semarang, Indonesia, Indonesia
Tri Indah Winarni scopus  -  Division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University Semarang, Indonesia, Indonesia
Open Access Copyright (c) 2024 Diponegoro International Medical Journal
Creative Commons License This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

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Abstract

Background: Sex chromosome DSD (Disorder of Sex Development) can be caused by numerical or structural abnormality in sex chromosome, which will lead to the atypical development in phenotype and also psychosexual. Gender assignment often become the primary problem in management of individual with DSD.

Objective: To describe gender identity and phenotype variability based on karyotype classification among sex chromosome DSD cases in Indonesia

Methods: This study is a descriptive retrospective study. Analyzing gender identity, karyotype classification and phenotype data from medical record of patients with cytogenetic analysis results classified as sex chromosome DSD in CEBIOR over 18 years period from 2004 to 2022.

Results: Data showed the sex chromosome DSD classification with karyotype 45,X and variant  (without Y chromosome), constituted 43.7% (42/96) cases, 100 % (42/42) patients have female gender identity; 19.8% (19/96) cases had karyotype 45,X/46,XY or Turner variant mosaicism with Y chromosome, majority of patients have male gender identity 73.7% (14/19); 18.7% (18/96) cases  had 47,XXY (Klinefelter syndrome) and variant, majority of patients have male gender identity in 88.9 % (16/18) cases; 11.4% (11/96) cases had 46,XX/46,XY karyotype, majority have male gender identity in 81.8 %(9/11) cases ; and 6 cases (6.25%) classified as others, 66.67% (4/6) cases all of which contain Y chromosome, have male gender identity.

Conclusion: . This study shows  the presence of Y chromosome in the karyotype support a male gender identity.  Sex chromosome DSD constitute high karyotype diversity and wide phenotypic abnormalities that necessitates careful clinical and cytogenetic evaluation

Note: This article has supplementary file(s).

Fulltext View|Download |  Data Set
Tabulation of gender and phenotype data
Subject sex chromosome dsd ;gender identity; phenotype; external masculinization score
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Keywords: DSD; gender; genetic; karyotype; phenotype; sex chromosome

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Section: Original Research Article
Language : EN
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  1. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006;
  2. Lee P, Houk C, Ahmed S, Hughes I. Consensus statement on management of intersex disorders: International Consensus Conference on Intersex. Pediatrics. 2006;
  3. Pellestor F, Andréo B, Arnal F, Humeau C, Demaille J. Maternal aging and chromosomal abnormalities: New data drawn from in vitro unfertilized human oocytes. Hum Genet. 2003;
  4. Jürgensen M, Lux A, Wien SB, Kleinemeier E, Hiort O, Thyen U. Health-related quality of life in children with disorders of sex development (DSD). Eur J Pediatr. 2014;
  5. Rogol AD. Human sex chromosome aneuploidies: The hypothalamic–pituitary–gonadal axis. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020
  6. Samango-Sprouse C, Kirkizlar E, Hall MP, Lawson P, Demko Z, Zneimer SM, et al. Incidence of X and Y chromosomal aneuploidy in a large child bearing population. PLoS One. 2016;
  7. Faradz SM, Listyasari NA, Juniarto AZ. AB004. Genetic diagnosis and experiences in management of disorders of sex development in Indonesia. Ann Transl Med. 2017;
  8. Mazen IM, Mekkawy MK, Ibrahim HM, Kamel AK, Hamza RT, Elaidy AA. Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development. Sex Dev. 2018;
  9. Walia R, Singla M, Vaiphei K, Kumar S, Bhansali A. Disorders of sex development: A study of 194 cases. Endocr Connect. 2018 Jan 31;7:EC-18
  10. Hiort O, Birnbaum W, Marshall L, Wünsch L, Werner R, Schröder T, et al. Management of disorders of sex development. Nature Reviews Endocrinology. 2014
  11. Witchel SF. Disorders of sex development. Best Practice and Research: Clinical Obstetrics and Gynaecology. 2018
  12. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature [Internet]. 2003;423(6942):825–37. Available from: https://doi.org/10.1038/nature01722
  13. Liu M, Murthi S, Poretsky L. Polycystic Ovary Syndrome and Gender Identity. Yale J Biol Med. 2020 Sep 30;93:529–37
  14. Kowalczyk R, Skrzypulec V, Lew-Starowicz Z, Nowosielski K, Grabski B, Merk W. Psychological gender of patients with polycystic ovary syndrome. Acta Obstet Gynecol Scand. 2012 Mar 24;91:710–4
  15. Leilei L, Zhang H, Yang Y, Zhang H, Wang R, Jiang Y, et al. High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism. Brazilian J Med Biol Res. 2020 Feb 14;53
  16. Quilter CR, Nathwani N, Conway GS, Stanhope R, Ralph D, Bahadur G, et al. A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex. J Med Genet [Internet]. 2002 Dec 1;39(12):e80 LP-e80. Available from: http://jmg.bmj.com/content/39/12/e80.abstract
  17. Premi S, Srivastava J, Panneer G, Ali S. Startling Mosaicism of the Y-Chromosome and Tandem Duplication of the SRY and DAZ Genes in Patients with Turner Syndrome. PLoS One. 2008 Feb 1;3:e3796
  18. Lau E, Fung Y. 45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea : A Case Report. J ASEAN Fed Endocr Soc. 2020 May 31;35:114–7
  19. Moustafa YW. A Case of Klinefelter Syndrome and Gender Dysphoria. Am J Psychiatry Resid J [Internet]. 2017 May 1;12(5):12–3. Available from: https://doi.org/10.1176/appi.ajp-rj.2017.120506
  20. Vries GJ De, Rissman EF, Simerly RB, Yang L-Y, Scordalakes EM, Auger CJ, et al. A Model System for Study of Sex Chromosome Effects on Sexually Dimorphic Neural and Behavioral Traits. J Neurosci [Internet]. 2002 Oct 15;22(20):9005 LP – 9014. Available from: http://www.jneurosci.org/content/22/20/9005.abstract
  21. Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int. 2000;
  22. Kutney K, Konczal L, Kaminski B, Uli N. Challenges in the diagnosis and management of disorders of sex development. Birth Defects Research Part C - Embryo Today: Reviews. 2016
  23. S. AHA, A.M. AJN, M. ABA, Ahmed AM, Al HM, A. ARA, et al. Sex Reassignment: A Challenging Problem—Current Medical and Islamic Guidelines. Ann Saudi Med [Internet]. 1996 Jan 1;16(1):12–5. Available from: https://doi.org/10.5144/0256-4947.1996.12
  24. Su R, P. Adam M, Ramsdell L, Y. Fechner P, Shnorhavorian M. Can the external masculinization score predict the success of genetic testing in 46,XY DSD? AIMS Genet. 2015;
  25. Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, et al. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). Clinical Endocrinology. 2016
  26. Listyasari NA, Juniarto AZ, Robevska G, Ayers KL, Sinclair AH, Faradz SMH. Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients. Egypt J Med Hum Genet [Internet]. 2021;22(1):14. Available from: https://doi.org/10.1186/s43042-021-00134-3
  27. 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. Eur J Endocrinol [Internet]. 2017;177(3):G1–70. Available from: https://eje.bioscientifica.com/view/journals/eje/177/3/EJE-17-0430.xml
  28. Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, et al. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia. Clin Endocrinol (Oxf). 2016;
  29. Cox RM. Sex steroids as mediators of phenotypic integration, genetic correlations, and evolutionary transitions. Mol Cell Endocrinol [Internet]. 2020;502:110668. Available from: https://www.sciencedirect.com/science/article/pii/S0303720719303703

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