‘It was Supposed to be a Secret’: a study of disclosure and stigma as experienced by adults with differences of sex development

Figures & data

Table 1. Brief description of the represented conditions.

Diagnosis	Brief description	References
Congenital adrenal hyperplasia (CAH)	CAH affects both males and females. Persons born with CAH lack an enzyme that the body needs to produce cortisole and aldosterone, two vital hormones. Consequently, the body produces more testosterone than needed. For girls, this may result in genital variations such as a larger than typical clitoris and a closed vaginal opening. Persons diagnosed with CAH are in need of lifelong medication to normalize their hormone levels	Witchel (2017)
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)	MRKH affects only females. The ovaries and external genitals are normal and females with MRKH develop breasts and pubic hair. However, females born with MRKH have a uterus, cervix and upper vagina that has not developed as expected. Consequently, they do not start to menstruate and cannot become pregnant. Penetrating intercourse might be difficult because of a shorter vagina	Herlin, Petersen, and Brännström (2020)
Turner syndrome (TS)	TS only affects females. They lack partly or completely the one X chromosome. The most common future of TS is short stature and non-function ovaries, resulting in a lack of monthly periods and infertility. TS is often associated with a number of other health conditions and symptoms, including learning difficulties and social problems	Shankar and Backeljauw (2018)
Klinefelter syndrome (KS)	KS only affects males. Individuals with KF are born with an extra X-chromosome (XXY) and do not produce the usual level of testosterone. Males with KS have differences in the development of male characteristics (testes and body hair), delayed puberty and KS may affect bone strength and fertility	Tremblay et al. (2016)
Hypospadia,	Hypospadia only affects males and affects the development of the penis. The types of hypospadias range from the urethral opening appearing nearer the tip of the penis or nearer the scrotum The testis may be affected	Kumar and Cherian (2022)

Witchel, S. F. (2017). Congenital adrenal hyperplasia. Journal of Pediatric and Adolescent Gynecology, 30(5), 520–534. doi:10.1016/j.jpag.2017.04.001

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Herlin, M. K., Petersen, M. B., & Brännström, M. (2020). Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A comprehensive update. Orphanet Journal of Rare Diseases, 15(1), 1–16. doi:10.1186/s13023-020-01491-9

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Shankar, R. K., & Backeljauw, P. F. (2018). Current best practice in the management of Turner syndrome. Therapeutic Advances in Endocrinology and Metabolism, 9(1), 33–40. doi:10.1177/2042018817746291

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Tremblay, I., Van Vliet, G., Gonthier, M., & Janvier, A. (2016). Partnering with parents to disclose Klinefelter syndrome to their child. Acta Paediatrica, 105(5), 456–461. doi:10.1111/apa.13301

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Kumar, N, & Cherian, A. (2022). C. Sinha & M. Davenport, Handbook of Pediatric Surgery (pp. 331–336). Springer.

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Data availability statement

Due to the qualitative nature of this research, the datasets generated during the current study are not publicly available due to participant confidentiality issues.