Psychosexual Development in Individuals with Disorders of Sex Development

  • Birgit Köhler
  • Martina Jürgensen
  • Eva Kleinemeier
  • Ute Thyen
Part of the Focus on Sexuality Research book series (FOSR)


Disorders of sex development include a large, very heterogeneous group of genetic conditions resulting in atypical anatomical development of the sex organs due to errors in genes determining fetal gonadal development, hormone production, or response to hormones. Broad categories encompass individuals with 46,XY karyotype and varying degrees of undervirilization who may live as boys or girls, may live as men or women, or may choose a third or no gender as adults. Individuals with 46,XX karyotype are mostly women affected by prenatal excess androgen exposure with varying degrees of virilization. In Europe, the great majority of 46,XX DSD persons live in the female gender, which may be different in other cultures and healthcare systems where hormone treatment may be late or not available. Among many outcomes, psychosexual development can be affected by the condition itself, medical interventions such as surgery or hormone replacement therapy, impact of delayed or precocious development, experience of stigmatization or psychological trauma, societal expectations of gender role behavior, dysphoria with assigned sex of rearing, and comorbid mental health conditions. In this chapter, we review the literature and present the major findings of the German clinical evaluation study which included about 400 individuals with DSD of all ages. The conclusions follow the findings and the considerations of the National German Ethical Board issued in 2012.


Gender Identity Congenital Adrenal Hyperplasia Gender Dysphoria Gonadal Dysgenesis Androgen Insensitivity Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The work of the senior author (Ute Thyen) was in part supported by a senior fellowship grant of the Alfried Krupp Wissenschaftskolleg in Greifswald, Germany. The clinical evaluation study was part of the German Network on IS/DSD and funded by the German Ministry of Education and Science (FKZ 01GM0311) within the research program on rare diseases.


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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Birgit Köhler
    • 1
  • Martina Jürgensen
    • 2
    • 3
  • Eva Kleinemeier
    • 3
  • Ute Thyen
    • 3
  1. 1.Department of Pediatric EndocrinologyUniversity Children’s Hospital, Charité, Humboldt UniversityBerlinGermany
  2. 2.Institute for Social MedicineUniversity LübeckLuebeckGermany
  3. 3.Department for Paediatric and Adolescent MedicineUniversity Clinic Schleswig-HolsteinLuebeckGermany

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