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Genetic and Rare Diseases Information Center (GARD)

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46, XY disorders of sexual development


Other Names for this Disease
  • 46, XY DSD
  • 46, XY female
  • 46,XY disorder of sex development
  • 46,XY DSD
  • XY female
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How is the gender perception of the affected people with 46, XY disorders of sexual development?

As you can read in our GARD webpages, the 46, XY disorders are a group of different conditions including 46, XY complete gonadal dysgenesis (Swyer syndrome), 46 XY, partial gonadal dysgenesis (Denys-Drash syndrome, Frasier syndrome), ovotesticular DSD, testicular regression syndrome (vanishing testes syndrome) , Leydig cell aplaisa/hypoplasia, testosterone biosynthesis defects, POR gene abnormality, persistent Mullerian duct syndrome, 5 alpha-reductase type 2 deficiency and complete and partial androgen insensitivity syndromes.

Therefore, several biologic factors such as genetic and hormonal influences contribute to gender identity, gender role behavior, and sexual orientation in humans, but this relationship is also modified by psychological, social, and cultural factors. Sex assignment of children with ambiguous genitalia remains a difficult decision for the families involved and subject to controversial discussion among professionals and self-help groups. Every case is unique and it is suggested that gender assignment should be based on clinical experience, study of the literature, and interviews with affected individuals.[1]

In a large study recently published about women with complete androgen insensitivity syndrome (CAIS) it was found that they perceive themselves as highly feminine throughout development. Additionally, CAIS women largely report their sexual attraction, fantasies, and experiences were best described as female heterosexual. CAIS women unanimously reported satisfaction with being a woman (100%).[2] Another study with 46, XY individuals with androgen secreting testicular tissue and 46, XX individuals with congenital adrenal hyperplasia concluded that androgen exposure may have some effect in higher brain function and the perception of the gender. The authors suggested that gender counseling should be part of the routine management for these patients to make sure that they are happy with being females.[3]

The World Health Organization provides relevant information about gender and genetics in the following links: Genetic Components of Sex and Gender
Gender Assignment of Intersex Infants and Children
Legal Definitions of Gender
Last updated: 7/7/2015

References
  1. Thyen U, Richter-Appelt H, Wiesemann C, Holterhus PM & Hiort O. Deciding on gender in children with intersex conditions: considerations and controversies. Treat Endocrinol. 2005; 4(1):1-8. http://www.ncbi.nlm.nih.gov/pubmed/15649096. Accessed 7/7/2015.
  2. Wisniewski AB & cols. Complete Androgen Insensitivity Syndrome: Long-Term Medical, Surgical, and Psychosexual Outcome. JCEM. July 2, 2013; 85:8. http://www.ncbi.nlm.nih.gov/pubmed/10946863. Accessed 7/7/2015.
  3. Ercan O, Kutlug S, Uysal O, Alikasifoglu M & Inceoglu D. Gender identity and gender role in DSD patients raised as females: a preliminary outcome study. Front Endocrinol. July 15, 2013; 4:86. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711069/. Accessed 7/7/2015.


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Other Names for this Disease
  • 46, XY DSD
  • 46, XY female
  • 46,XY disorder of sex development
  • 46,XY DSD
  • XY female
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.