Understanding sexual health concerns among adolescents and young adults with differences of sex development: a qualitative study

Figures & data

Table I. Brief descriptions of the represented conditions.

Diagnosis	Brief description	Reference
Congenital adrenal hyperplasia (CAH)	CAH affects both males and females. Persons born with CAH lack an enzyme that the body needs to produce cortisol and aldosterone, two vital hormones. Consequently, the body produces more testosterone than required. For females, this may result in genital variations, such as larger than typical clitoris and a closed vaginal opening. Persons diagnosed with CAH require lifelong medication to stabilize their hormone levels.	Witchel (2017)
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)	MRKH only affects 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 due to a shorter vagina.	Herlin et al. (2020)
Swyer syndrome	Females with Swyer syndrome have a female phenotype. They have a uterus, vagina, and fallopian tubes. The gonads have not developed as expected and produce no hormones. They have a 46,XY karyotype and do not menstruate. Females with Swyer syndrome cannot have genetic children, although pregnancy may be feasible through egg donation. Early prophylactic removal of the streak gonads is discussed due to the risk of developing gonadal malignancy. Hormonal therapy is required.	Michala and Creighton (2010)
Complete androgen insensitivity syndrome (CAIS)	Individuals with CAIS exhibit hormonal resistance to androgens, which results in a female phenotype with a 46,XY karyotype and testes that produce androgens (testosterone). Consequently, females with CAIS have an absent uterus, shorter vagina, are infertile, and do not menstruate. Prophylactic removal of the gonads (testis) is considered due to the risk of developing gonadal malignancy. Hormonal replacement therapy is offered.	Grymowicz et al. (2021)
Hypospadia, severe form	Hypospadia only affects males. It 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)

Table II. Sample characteristics.

		Total (n = 11)	Male (n = 3)	Female (n = 8)
Age range (mean)		16–26 (20.4)	16–23 (20.6)	16–26 (20.3)
46,XX DSD female	CAH (n)	5	-	5
	MRKH (n)	1	-	1
46,XY DSD female	CAIS (n)	1	-	1
	Swyer syndrome (n)	1	-	1
46,XY DSD male	Hypospadia or structural associations of external genitalia (n)	3	3	-

Note: DSD = differences of sex development, CAH = congenital adrenal hypoplasia, MRKH = Mayer-Rokitansky-Küster-Hauser syndrome, CAIS = complete androgen insensitivity syndrome.

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

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

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Michala, L., & Creighton, S. M. (2010). The XY female. best practice & research. Clinical Obstetrics & Gynaecology, 24(2), 139–148. https://doi.org/10.1016/j.bpobgyn.2009.09.009

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Grymowicz, M., Rudnicka, E., Smolarczyk, K., Smolarczyk, R., Szeliga, A., Podfigurna, A., & Męczekalski, B. (2021). Complete androgen insensitivity syndrome. In P. Igaz (Ed.), Practical clinical endocrinology (pp. 425–431). Springer.

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Kumar, N., & Cherian, A. (2022). Disorders of sex development. In C. Sinha & M. Davenport (Eds.), Handbook of pediatric surgery (pp. 331–336). Springer.

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Data availability statement

Given the qualitative nature of this study, the generated datasets are not publicly available due to participant confidentiality issues.