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Clinical European study on the outcome of surgical and hormonal therapy and psychological intervention in disorders of sex development (DSD)

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Care improvement of sex development disorders (DSD)

Disorders of sex development (DSD) are rare diseases of an atypical genetic nature with an estimated incidence of one in every 4 500 people. Aiming to address their quality of life and improve patient care, European scientists performed a large multicentre study.

Health

DSDs are characterised by gonadal dysgenesis, decreased androgen synthesis or function in XY males or disorders with elevated androgen production in XX females. Sex decision is often difficult given the ambiguous genitalia at birth, requiring genital constructive surgery and affecting psychosexual development. At the same time, many cases of DSD are treated with sex hormone substitution in puberty and adult life, which has a life-long impact on the affected individuals and often necessitates psychological counselling. In a clinical multidisciplinary European study, the EU-funded DSD-LIFE project investigated the quality of life, psychological well-being and psychosocial adaptation of DSD patients undergoing surgery alongside hormone therapy, psychological and social support. The rationale was to improve clinical management of DSD and develop recommendations for better care, especially for cases where no dedicated treatment is currently approved. A total of 1 040 individuals with different DSD conditions were incorporated in the study and various psychosocial, medical and ethical issues were identified. The project team obtained data on a conglomerate of genetically based diagnoses that included patients with no genetic abnormalities, patients with chromosomal aberrations and others with genital dysgenesis. Patient-related outcome was evaluated by an online questionnaire and through objective medical data. Combined with information on mental health, body image and self-esteem, they served as the basis for recommendations for treating major DSD diagnosis groups. Considerable effort went towards communicating DSD-LIFE project activities and raising public awareness on DSD. A parents’ website was generated in six different languages alongside a brochure for health care professionals. Overall, the outcome of the DSD-LIFE study is expected to provide better care of DSD patients and improve their psychosocial adaptation, while advancing our knowledge about these conditions and reducing the associated social stigma.

Keywords

Disorders of sex development, gonadal dysgenesis, surgery, sex hormone substitution, DSD-LIFE

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