Gender dysphoria associated with disorders of sex development

  title={Gender dysphoria associated with disorders of sex development},
  author={Paulo Sampaio Furtado and Felipe Moraes and Renata Lago and Luciana Oliveira Barros and Maria Bet{\^a}nia Pereira Toralles and Ubirajara Barroso},
  journal={Nature Reviews Urology},
Disorders of sex development (DSDs) are estimated to be prevalent in 0.1–2% of the global population, although these figures are unlikely to adequately represent non-white patients as they are largely based on studies performed in Europe and the USA. Possible causes of DSDs include disruptions to gene expression and regulation—processes that are considered essential for the development of testes and ovaries in the embryo. Gender dysphoria generally affects between 8.5–20% of individuals with… 

Gender identity outcomes in children with disorders/differences of sex development: Predictive factors.

Information on gender identity outcomes across a range of DSD diagnoses is presented to aid in sex of rearing assignment.

Gender Identity and Sexual Function in 46,XX Patients with Congenital Adrenal Hyperplasia Raised as Males

This study showed that this group of 46,XX severely virilized patients with CAH, registered and raised as males, adapted well to the assigned male gender, with satisfactory sexual function in patients who had sexual intercourse.

Female urogenital reconstruction in a case of sexual development disorder (46, XY) with cloacal exstrophy associated with diphallia

The case of a patient with rare involvement of DSD 46, XY cloacal exstrophy associated with diphallia who underwent surgical treatment for female urogenital reconstruction is reported, which reveals a non-binary gender identity, absence of gender dysphoria, satisfaction with her own body and androphilic sexual orientation.

Understanding disorders of sexual development.

Issues in the Long-Term Management of Adolescents and Adults with DSD: Management of Gonads, Genital Reconstruction, and Late Presentation of the Undiagnosed DSD

The surgeon who once dealt primarily with DSD in infancy must be cognizant of the ever-changing guidelines and opinions related to the various disorders and engage the adolescent and young adult in the options available and the informed consent process.

Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review

A small number of studies demonstrated that patients with hypospadias or complete androgen insensitivity syndrome reported better mental health than patients with other 46,XY (DSD) diagnoses.



Gender Change from Female to Male in Classical Congenital Adrenal Hyperplasia

The most plausible factors contributing to cross-gender identity development in these patients appeared to be neither a particular genotype or endocrinotype nor a sex-typing bias on the part of the parents but a combination of a gender-atypical behavioral self-image, aGender- atypical body image, and the development of erotic attraction to women.

Psychosexual Development of Women with Congenital Adrenal Hyperplasia

Compared to the controls, the women with CAH recalled more cross-gender role behavior and less comfort with their sense of "femininity" during childhood, and the two groups did not differ in degree of gender dysphoria in adulthood, although the probands showed moreCross- gender role identification.

Gender Identity and Sex-of-rearing in Children with Disorders of Sexual Differentiation

  • W. Reiner
  • Medicine, Psychology
    Journal of pediatric endocrinology & metabolism : JPEM
  • 2005
Active prenatal androgen effects appeared to dramatically increase the likelihood of recognition of male sexual identity independent of sex-of-rearing in individuals with disorders of sexual differentiation.

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

In the largest cohort to date, a wide spectrum of phenotypes and biological profiles in patients with 5α-reductase deficiency, whatever their geographical or ethnic origins, are demonstrated.

Prenatal Androgenization Affects Gender-Related Behavior But Not Gender Identity in 5–12-Year-Old Girls with Congenital Adrenal Hyperplasia

It is concluded that prenatal androgenization of 46,XX fetuses leads to marked masculinization of later gender-related behavior, but the absence of any increased gender-identity confusion/dysphoria does not indicate a direct determination of gender identity by prenatal androgens and does not support a male gender assignment at birth of the most markedly masculinized girls.

Deciding on Gender in Children with Intersex Conditions

Preliminary recommendations based on clinical experience, study of the literature, and interviews with affected individuals are suggested, given that the empirical basis of knowledge of the causes, treatment options, long-term outcomes, and patient preferences is insufficient.

Hormonal Therapies for Individuals with Intersex Conditions

Intersex conditions are, however, difficult to treat because they may intrinsically perturb complex aspects of the person’s gender identity, gender-role behavior, sexual orientation, sexual functioning, and psychologic adjustment.

Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency.

It is shown that gender role changes occur frequently, but not invariably, in individuals with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency who were raised as girls.

Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome.

Either male or female sex of rearing can lead to successful long-term outcome for the majority of cases of severe genital ambiguity in 46,XY individuals.