The Journal of Sexual Medicine

Volume 10, Issue 11, November 2013, Pages 2703-2714

ORIGINAL RESEARCH

Psychosexual Development in Adolescents and Adults

with Disorders of Sex Development—Results from the
German Clinical Evaluation Study
Martina Jürgensen MD 1, Eva Kleinemeier MD 2, Anke Lux MD 3, Thomas D. Steensma MSC 4, Peggy T. Cohen-Kettenis PhD 4,
Olaf Hiort MD, PhD 2, Ute Thyen MD, PhD 2, Birgit Köhler MD 5

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ABSTRACT

Introduction
Both biological and psychosocial factors influence psychosexual development. High levels of pre- and postnatal
androgens lead to more male-typical behavior. So far, the influence of androgens on gender identity and sexual
orientation is unclear. Disorders of sex development (DSDs) are heterogeneous genetic conditions with different
levels of prenatal androgens resulting in variations of genital development. Through DSD, the role of the different
factors, especially androgen exposure, on psychosexual development can be evaluated.

Aim
The purpose of the study was to assess psychosexual development in adolescents and adults with different forms of
DSD.

Methods
For the examination of psychosexual development of 66 adolescents and 110 adults with DSD, the authors used the
Utrecht Gender Dysphoria Scale for adolescents, the Questionnaire of Gender Identity for adults, and a condition-
specific DSD study questionnaire. Individuals were analyzed in four subgroups reflecting the karyotype,
absence/presence of androgen effects, and gender of rearing.

Main Outcome Measures

Main outcome measures used were gender identity, friendships, love and sexual relationships, and sexual
orientation in adolescents and adults with DSD.
Results
Individuals with DSD did not show increased gender dysphoria. However, partnership and sexuality were identified
to be difficult areas of life. Both adolescents and adults with DSD reported fewer experiences regarding love or
sexual relationships compared with unaffected individuals. Especially men with DSD and undervirilization and
women with DSD and androgen effects less often had a love relationship. Adult women with DSD and androgen
effects more frequently engaged in love and sexual relationships with individuals of the same gender compared
with women without DSD.

Conclusion
Individuals with DSD experience atypical hormonal influences (higher levels of androgens in girls/women and
lower levels in androgens in boys/men); however, they did not show increased gender dysphoria in this study.
However, partnership and sexual relationships are difficult areas of life for adolescents and adults with DSD. We
recommend that individuals with DSD should get support from a multiprofessional team with competency in
assessing and counseling issues regarding relationships and sexuality. Contact to other individuals with DSD can be
helpful for nonprofessional support and exchange of experiences. Jürgensen M, Kleinemeier E, Lux A, Steensma TD,
Cohen-Kettenis PT, Hiort O, Thyen U, Köhler B, and the DSD Network Working Group. Psychosexual development in
adolescents and adults with disorders of sex development—Results from the German Clinical Evaluation Study. J Sex
Med 2013;10:2703–2714.

Introduction

Psychosexual development is a complex and long-lasting process influenced by genetic and hormonal effects and
psychosocial factors [1]. Psychosexual development includes gender identity, gender role behavior, and sexual
orientation 2, 3. Gender identity characterizes the basic sense of being female or male 2, 3, 4, 5, 6, 7. Gender role
refers to all behaviors, attitudes, and personal traits considered by society appropriate or typical for men or women.
Sexual orientation means the sex that an individual is erotically attracted to.

Human beings show a great variability in psychosexual development, both between and within genders.
Nevertheless, there are gender-related behaviors, interests, and self-perceptions, in which men and women
generally show differences. There is evidence that prenatal exposure of the brain to androgens is associated with
male-typical behavior, whereas female-typical behavior develops in the absence or very low levels of androgens 8,
9, 10, 11, 12.

Disorders of sex development (DSDs) are defined as congenital conditions with incongruence between
chromosomal, gonadal, and phenotypical sex. DSDs are classified as sex chromosome DSD, 46,XX DSD, and 46,XY
DSD and include conditions with diverse genetic etiology, varying levels of prenatal androgens, and different genital
phenotypes [13]. Consequently, the effect of the different factors, especially the effect of prenatal androgens on
sexual development, can be investigated through individuals with DSD.

46,XX DSD includes mainly women with congenital adrenal hyperplasia (CAH), an enzymatic defect in adrenal
steroid synthesis, and high prenatal androgens. Women with CAH show increased male-typical behavior patterns
and interests 14, 15, 16, 17. The majority of women with CAH (95%) seem not to experience serious gender identity
problems. However, a minority (5%) report gender dysphoria. Although this rate far exceeds gender dysphoria in the
general population, the absolute proportion is quite low 18, 19. Some studies showed gender change from female to
male in few adolescents and adults 19, 20, 21, 22, 23. In addition, some studies reported a delay of sexual
experiences, a reduced interest in sexual activities, lower maternalism, and a higher prevalence of bi- or
homosexual orientation in women with CAH compared with the general female population 16, 21, 24, 25, 26, 27, 28.
46,XY DSD includes conditions with 46,XY karyotype with different degrees of undervirilization. Previous studies
showed that the psychosexual development of individuals with XY,DSD seems to be influenced by the level of
prenatal androgens: XY women with complete androgen insensitivity syndrome, with a complete lack of androgen
effects generally show strong female-typical behavior and a female gender identity 29, 30. In contrast, individuals
with partial androgen insensitivity syndrome (pAIS) with androgen effects seem to develop male-typical behavior
and preferences beginning in childhood irrespective of female or male gender of rearing [11]. Some studies showed
that gender change from female to male is not uncommon in female raised individuals with XY,DSD and disorders
of biosynthesis such as 5-alpha-reductase deficiency or 17β-hydroxysteroid dehydrogenase deficiency if the testes
remain in situ and the “girl” undergoes a masculinizing puberty 31, 32. There is evidence for an increase of gender
change for individuals with pAIS raised as females. Androgen exposed male raised individuals with XY,DSD showed
male-typical gender role behavior and male gender identity 32, 33.

Knowledge about psychosexual development in adolescents with DSD is scarce. There is some evidence that
nontypical genital appearance, a delay, or difference of pubertal development from peers negatively influences
psychosexual and psychosocial development 34, 35, 36, 37. Adults are supposed to struggle with their body image
and with infertility. Men with hypospadias were found to be reticent about seeking sexual contacts 38, 39.

Unfortunately, studies of psychosexual development in individuals with DSD have methodological problems [40].
Most studies had too small sample sizes or reported only on one diagnosis or age group. We performed a broad
nationwide study (German Clinical Evaluation Study 2003–2008) to evaluate medical, psychosocial, and
psychosexual outcomes and health-related quality of life in children, adolescents, and adults with DSD. The aim of
this substudy was to evaluate the psychosexual development of adolescents and adults and assess a possible
relationship of diagnosis, gender of rearing, and hormonal influences.

Section snippets

Recruitment of the Study Group

Recruitment took place primarily in four study centers in Germany. Furthermore, in Austria and Switzerland,
cooperation partners participated in four study centers. Additionally, self-help groups in Germany encouraged their
members to join the study (adolescents recruited via self-help groups 4.9%, internet 1.2%; adults recruited via self-
help groups 11.1%, internet 5.6%). Eighty-three percent of adolescents and 78% of adults contacted via the study
centers participated in the study. The study…

Characteristics of the Study Group

Mean age of the adolescents and adults was 15.0 years (SD 1.4, range 13–16 years) and 28.4 years (SD 9.7, range 17–
62), respectively. Seven adolescents (10.6%) and 13 adults (18.8%) lived in the male gender. Fifty-nine adolescents
(89.4%) and 97 adults (88.2%) lived in the female gender. Migration background (non-German cultural background)
was present in 12 adolescents (18.2%) and 12 adults (10.9%). The educational level of the adults or parents of the
adolescents was rather high: 24.2% of the …

Gender Identity/Gender Dysphoria

Adolescents with DSD had relatively low scores on the UGDS, suggesting no increased risk of gender dysphoria.
There were no significant differences between DSD subgroups. Comparison of all DSD subgroups with either girls or
boys with gender identity disorders (GIDs) showed significant differences (P < 0.001). Much higher scores were
found in adolescents with GID compared with adolescents with DSD (Table 3).

One adolescent (unclassified DSD-XY-P-M) with physician- and parent-initiated gender…

Gender Identity/Gender Dysphoria

On the Femininity Scale of the FGI, men with DSD did not differ from control men. As expected, control women had
the highest femininity score. Except for the DSD-XY-P-F group (P < 0.01), women with DSD did not score
significantly different from control women. Regarding the Masculinity Scale, men and women with DSD did not
differ from same-gender controls. On the Transgender Scale and the Scale on Gender Certainty, there were no
significant differences between DSD subgroups and control groups (…

Discussion

In adolescents with DSD, we did not find any signs of gender dysphoria or uncertainty about their gender identity.
There were no differences between DSD subgroups. Regarding adolescent boys with DSD, our results are concordant
with other studies 32, 33. The results in XX DSD females (CAH) are in line with previous studies showing no gender
dysphoria or insecurity in females with CAH 18, 45. Regarding female individuals with XY,DSD, our results do not
replicate study results of an increased rate …

Conclusion

This study shows that gender dysphoria is not very common in individuals with DSD. Most individuals were able to
develop a stable gender identity according to sex of rearing. However, peer, romantic, or sexual relationships were
identified to be a critical area for adolescents and adults with DSD. About 25% of all adults with DSD never had a
love relationship, so the results indicate that these individuals may benefit from support and counseling in respect
of relationships and sexuality.…

Category 1

(a) Conception and Design

Ute Thyen; Peggy T. Cohen-Kettenis…

(b) Acquisition of Data

Martina Jürgensen; Eva Kleinemeier; Birgit Köhler; Olaf Hiort…

(c) Analysis and Interpretation of Data

Martina Jürgensen; Anke Lux; Birgit Köhler…

Category 2

(a) Drafting the Article

Martina Jürgensen; Ute Thyen; Birgit Köhler…

(b) Revising It for Intellectual Content

Birgit Köhler; Peggy T. Cohen-Kettenis; Thomas D. Steensma…

Category 3

(a) Final Approval of the Completed Article

Peggy T. Cohen-Kettenis; Birgit Köhler…

Acknowledgement
The study was funded by the German Ministry of Education and Science (FKZ 01GM0311, to M.J., E.K., and U.T.).

We are very grateful to all study participants; without their openness and commitment to talk about very
intimidate aspects of their life, the study would not have been possible. We would like to thank Eva Hampel, Esther
Müller-Godeffroy, Heino Meyer-Bahlburg, and Hertha Richter-Appelt for methodological support and the
interviewers in Germany, Austria, and Switzerland. Many thanks to…

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Conflict of Interest: None.

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