Psychosoziale Versorgung bei Intersex/Varianten der Geschlechtsentwicklung : Leitlinienorientierte Beratung und Psychotherapie Guideline-oriented counseling and psychotherapy

The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up. Many adults with a DSD have health-related questions that remain unanswered owing to a lack of evidence pertaining to the natural evolution of the various conditions in later life stages. This Consensus Statement, developed by a European multidisciplinary group of experts, including patient representatives, summarizes evidence-based and experience-based recommendations for lifelong care and data collection in individuals with a DSD across ages and highlights clinical research priorities. By doing so, we hope to contribute to improving understanding and management of these conditions by involved medical professionals. In addition, we hope to give impetus to multicentre studies that will shed light on outcomes and comorbidities of DSD conditions across the lifespan.

Background: In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies. Methods: We used the registry for rare diseases in pediatrics in Germany to ascertain cases and asked reporting institutions for information on phenotype, laboratory tests, imaging results, diagnosis, initial management and sex assignment. Results: We identified 80 cases within a 2-year study period and calculated an incidence of 2 per 10,000 births with ambiguous genitalia per year in Germany. Prevalence was higher in infants from non-German family background. In more than 50% of all infants a definite diagnosis was lacking even at the age of 6 months. In those cases where the etiology was confirmed, the most common diagnosis was congenital adrenal hyperplasia, followed by androgen insensitivity syndrome and mixed gonadal dysgenesis. Associated malformations were very common, affecting 37.5% of all infants. Sex assignment was female in 46,XY infants with predominately female phenotype and all 46,XX infants. Early surgery was performed in many cases irrespective whether a definite diagnosis had been established or not. Integrated psychosocial care was the exception rather than the rule. Conclusions: Classification and management of ambiguous genitalia at birth remain a challenge for all professionals involved. National and international registries may help to provide a better understanding of the incidence and clinical course of such disorders.

Intersex or diverse sex development (dsd) can be conceptualized as an aspect of bodily diversity that has particular psychosocial implications. This is a review of psychosocial health care literature, published from 2007 to 2017, focusing on the well-being of people with a diagnosis relating to sex development. The analysis I offer here takes a critical psychological approach, questioning norms and taken-for-granted assumptions. This approach works from the understanding that how we know and how we talk about a phenomenon affects people in material and life-changing ways. This article offers recommendations concerning health care communication, the importance of taking time for emotion, and the process of building supportive relationships. The research reviewed provides clear evidence of psychosocial harm that is done through genital intervention and evidence that parents do not routinely give fully informed consent before their children undergo treatment. Finally, I highlight key points and recommendations for health professionals, indicating how psychosocial professionals can contribute to health care and well-being in the context of dsd when appropriately resourced and trained.