Subjective need for psychological support (PsySupp) in parents of children and adolescents with disorders of sex development (dsd).

UNLABELLED: Disorders/diversity of sex development (dsd) is an umbrella term for congenital conditions often diagnosed within childhood. As most parents are unprepared for this situation, psychological support (PsySupp) is recommended. The aim of this study was to analyse the extent to which parents express a need for PsySupp. Three hundred twenty-nine parents of children with dsd were included; 40.4 % of the parents indicated to have a need for PsySupp, only 50 % of this group received it adequately. The diagnoses partial gonadal dysgenesis, partial androgen insensitivity syndrome (pAIS) and disorders of androgen synthesis are associated with a high need for PsySupp in parents (54, 65, and 50 %). Sex assignment surgery neither reduced nor increased the need for PsySupp. Taking a picture, radiography, laparoscopy, gonadal biopsy, gonadectomy and hormonal puberty induction are associated with a high need for PsySupp. There was no association between the need for PsySupp and the parents' perception of the appearance of the genitalia. CONCLUSION: Having a child with dsd is associated with a high need for PsySupp in parents. In particular, parents of children with XY-dsd with androgen effects other than hypospadias expressed a high need of PsySupp. PsySupp for parents should be an obligatory part of interdisciplinary care to reduce fears and concerns. What is known • In parents, having a child with dsd provokes insecurities and fears. Hence, psychological support is recommended as part of the interdisciplinary care. What is new • This is the first study investigating the subjective need for psychological support in a large sample of parents of children with dsd in Germany. We present data on the subjective need for psychological support of the parents, related diagnoses and factors, which should be considered in psychological counselling.

Health-related quality of life in children with disorders of sex development (DSD).

UNLABELLED: Disorders of sex development (DSD) are rare genetic conditions resulting in atypical development of the sex organs. While some evidence is available on psychosexual outcomes, much less is known about the quality of life in this population, especially in children. Health-related quality of life (HRQOL) is a widely accepted endpoint for assessment and evaluation of interventions and medical care. Within the German DSD Network study, 86 children aged 8-12 years with several subtypes of DSD were recruited from Germany, Austria and Switzerland. Demographic, medical and psychosocial variables were collected through interviews of the attending physicians, the children and the parents. HRQOL was the primary outcome. It was assessed by the KINDL-R Questionnaire [2001]. Psychosexual determinants included gender identity/gender dysphoria, gender role behaviour, the child's knowledge about the condition and number/timing of genital surgery. A significant reduction of HRQOL was reported in children's self-report (p < 0.001), in particular in the area of self-esteem (p < 0.001), physical well-being (p < 0.01) and school functioning (p < 0.05). Girls with congenital adrenal hyperplasia who experienced gender dysphoria reported lower HRQOL scores compared to the study group at large. Atypical gender role behaviour was not associated with HRQOL. CONCLUSION: Psychosocial support of children with DSD and their families appears to be necessary in at least some cases and must be accessible for all patients.

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.

Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study.

BACKGROUND: Prenatal deficit of androgens or androgen action results in atypical genitalia in individuals with XY disorders of sex development (XY,DSD). XY,DSD include mainly disorders of gonadal development and testosterone synthesis and action. Previously, most XY,DSD individuals were assigned to the female sex. Constructive genital surgery allowing heterosexual intercourse, gonadectomy, and hormone therapy for feminization were often performed. However, outcome studies are scarce. OBJECTIVE: Our objective was evaluation of satisfaction with genital surgery and sexual life in adults with XY,DSD. DESIGN AND METHODS: We evaluated 57 individuals with XY,DSD from the German multicenter clinical evaluation study with a condition-specific questionnaire. The individuals were divided into subgroups reflecting the absence/presence of partial androgen effect or genital constructive surgery. RESULTS: Dissatisfaction with function of the surgical result (47.1%) and clitoral arousal (47.4%) was high in XY,DSD partially androgenized females after feminization surgery. Dissatisfaction with overall sex life (37.5%) and sexual anxieties (44.2%) were substantial in all XY,DSD individuals. Problems with desire (70.6%), arousal (52.9%), and dyspareunia (56.3%) were significant in XY,DSD complete females. 46,XY partially androgenized females reported significantly more often partners of female (9.1%) or both sexes (18.2%) and dyspareunia (56.5%) compared with controls. Individuals with complete androgen insensitivity syndrome stated significant problems with desire (81.8%), arousal (63.6%), and dyspareunia (70%). CONCLUSIONS: Care should be improved in XY,DSD patients. Constructive genital surgery should be minimized and performed mainly in adolescence or adulthood with the patients' consent. Individuals with DSD and their families should be informed with sensibility about the condition. Multidisciplinary care with psychological and nonprofessional support (parents, peers, and patients' support groups) is mandatory from child to adulthood.

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.

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

BACKGROUND: The 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 DESIGN: The 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. DISCUSSION: The 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.