Martina Jürgensen

Psychosexual Development in Adolescents and Adults with Disorders of Sex Development—Results from the German Clinical Evaluation Study

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.

Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality

BackgroundThe German Network of Disorders of Sex Development (DSD)/Intersexuality carried out a large scale clinical evaluation study on quality of life, gender identity, treatment satisfaction, coping, and problems associated with diagnoses and therapies in individuals with disorders of sex development (DSD). DSD are a heterogeneous group of various genetic disorders of sex determination or sex differentiation, all of which are rare conditions. In about half of all cases the molecular genetic diagnosis is unknown and diagnosis rests on clinical features.Methods and designThe multi-centre clinical evaluation study includes short-term follow-up in some and cross-sectional assessments in all age and diagnostic groups fitting the criteria of DSD. Recruitment was from January 2005 until December 2007 in whole Germany and, additionally, in 2007 in Austria and German-speaking Switzerland. The study consists of a psychosocial inquiry for children, adolescents and their parents, and adults with standardized instruments and the collection of DSD-specific medical data by the attending physician. The main goal was the description of clinical outcomes and the health-care situation of individuals with DSD using a broad generic definition of DSD including all conditions with a mismatch of chromosomal, gonadal and phenotypical sex. 439 children and adolescents, their parents and adults with DSD participated.DiscussionThe clinical evaluation study represents the most comprehensive study in this clinical field. The paper discusses the study protocol, the data management and data quality as well as the classification used, and it describes the study population. Given the lack of large datasets in rare conditions such as DSD and often biased results from small scale clinical case series, the study aims to generate concrete hypotheses for evidence-based guidelines, which should be tested in further studies.

Psychological Adjustment and Sexual Development of Adolescents With Disorders of Sex Development

PURPOSE Disorders of sex development (DSD) are a heterogeneous group of congenital conditions characterized by an atypical development of chromosomal, gonadal, or anatomical sex. Particularly at the time of expected puberty, adolescents with DSD may become aware of being different from peers. This study explores the effect of DSD on psychosocial well-being and sexual development. METHODS We interviewed 60 adolescents aged 13-16 years with a DSD. To measure health-related quality of life, mental health, and body image, we used standardized instruments and additional questions related to sexuality and coping with DSD. Reference and control data were available from the German Health Survey for Children and Adolescents (Kiggs) and from a secondary school survey. RESULTS The general psychological well-being of adolescents with DSD was not impaired. However, outcomes related to adolescent developmental tasks like sexual activities demonstrated impaired participation, especially girls with DSD reported fewer sexual activities than female controls. Adolescents who needed hormonal treatment to induce puberty reported impaired well-being in nearly all outcomes in contrast to those who entered puberty spontaneously. CONCLUSIONS Interdisciplinary health care teams should focus on the pressure of conformity and openly discuss it with the adolescent in context of treatment decisions. Furthermore, special counseling concerning sexuality and coping with the condition in daily life is needed.

Psychosexual development in children with disorder of sex development (DSD) - Results from the German Clinical Evaluation Study

ABSTRACT Psychosexual development is influenced by biological and psychosocial factors. Human beings show a great variability in psychosexual development both between and within gender-groups. However, there are relatively stable gender-related behaviors and self-perceptions, in which males and females differ distinctly. There is strong evidence that high concentrations of androgens lead to more male-typical behavior and that this also influences gender identity. Disorders of sex development (DSD) provide the opportunity to analyze the role of different factors on psychosexual development. We examined 166 children age 4 to 12 with DSD using instruments concerning gender role behavior, gender identity, and friendship. Results underline the hypothesis, that androgens play a decisive role in the masculinization of gender role behavior in children. There are also some relations between the experience of gender change and psychosexual outcomes which have to be discussed. Nevertheless, results indicated a high congruence between the childrens gender identity and gender of rearing.

Utilization of Health Care Services and Satisfaction with Care in Adults Affected by Disorders of Sex Development (DSD)

ABSTRACTBACKGROUNDDisorders of sex development (DSD) are a heterogeneous group of rare genetic disorders of sex determination or differentiation. Evidence-based guidelines concerning gender assignment and surgical and hormonal treatment are limited for many DSD entities, and health care is highly fragmented across various sub-specialties and settings. A lack of informed consent, secrecy about the condition, shame, and impaired sexual and psychosocial functioning may affect satisfaction with care.OBJECTIVESThe main goal of this study was to describe satisfaction with care in individuals with DSD and to identify factors associated with low satisfaction with care.METHODS / MAIN MEASURESUsing both biological (chromosomes) and social categories (sex of rearing), we classified participants according to the nomenclature of the European Society for Pediatric Endocrinology/Lawson Wilkins Pediatric Endocrine Society (ESPE/LWPES) consensus statement. We used standardized measures to assess satisfaction with care (CSQ-8), health-related quality of life (SF-36), psychological symptoms (BSI), and gender identity (FGI), in addition to self-constructed questionnaires probing experiences with health care and access to self-help groups.PARTICIPANTSA total of 110 adults were recruited between January 2005 and December 2007 in four study centers in Germany, Austria, and German-speaking Switzerland.RESULTSReports of half the participants scored below the cut-off indicating low quality of care. Women with XX DSD conditions and virilization (i.e., congenital adrenal hyperplasia) reported the highest scores for satisfaction with care, and women with XY DSD conditions and complete lack of androgen effects reported the lowest scores. Satisfaction with care was positively associated with indicators of psychological well-being.CONCLUSIONSSatisfaction with care is lowest among participants with the rarest conditions, highlighting the lack of evidence-based recommendations and the lack of coordination of care. Associations of satisfaction and well-being indicate the need to ensure access to mental health services.

Psychosexual Development in Individuals with Disorders of Sex Development

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.

Kinder und Jugendliche mit Störungen der Geschlechtsentwicklung@@@Children and adolescents with disorders of sexual development: Psychosexuelle und -soziale Entwicklung und Herausforderungen bei der Versorgung@@@Psychosexual and social development and challenges for health care services

ZusammenfassungDie Diagnose von Störungen der Geschlechtsentwicklung (DSD) ist zu jedem Zeitpunkt im Leben eines Menschen möglich. Sie wirft eine Vielzahl von Fragen hinsichtlich der weiteren körperlichen, psychosexuellen und -sozialen Entwicklungen auf. Bisherige Erkenntnisse geben Hinweis darauf, dass ein weitestgehend störungsfreies Heranwachsen der betroffenen Kinder und Jugendlichen weniger von der Art und der Ausprägung der Störung selbst als vielmehr von der Art des Versorgungsmanagements abhängt. Für eine adäquate Versorgung von Personen mit DSD wird heute die Betreuung durch ein multiprofessionelles Team innerhalb eines spezialisierten Referenzzentrums als notwendig angesehen.AbstractDisorders of sexual development (DSD) may be diagnosed at any age. At the time of diagnosis, many questions concerning the individual’s physical, psychosexual, and psychosocial development emerge. There is evidence that developmental outcomes of DSD in children and adolescents depend less on the nature and severity of the disorder itself and more on the quality of the management. Only multiprofessional teams working in specialized centers may be able to guarantee adequate treatment for individuals with DSD.