Endocrine Abstracts (2012) 28 PL9

Long-term outcome and quality of life in patients with disorders of sex development

Berenice Mendonca


Internal Medicine, University of Sao Paulo, Sao Paulo, Brazil.


This study aimed to identify variables involved in gender identity and sexual orientation, as well as to evaluate the professional and psychosocial aspects and quality of life in adulthood of a large cohort of patients with 46,XY and 46,XX DSD followed by a multidisciplinary team in a tertiary public hospital in Brazil. The study was mainly retrospective and comprised 151 DSD patients; 55 patients had 46,XX and 96 had 46,XY karyotypes. Etiological diagnosis of DSD was established and confirmed by molecular diagnosis in a majority of cases. Instruments used for psychological evaluation were a semi-structured interview involving the application of a specific questionnaire, the projective HTP test and the Whoqol-Bref questionnaire to evaluate quality of life. Female gender assignment was more prevalent in both groups. Assigned sex change occurred in 20% of the 46,XY DSD patients and in 14% of the 46,XX DSD patients. Amongst 46,XY DSD individuals, change to male social sex was more common in 5 alpha-RD2 deficiency patients than in those with defects of testosterone synthesis or action. Five patients with CAH due to 21-hydroxylase deficiency changed to male social sex, all of them came from low-income families and had been treated irregularly. In multivariate analysis preference for male or neutral toys in childhood had the best predictive value for male gender identity in adulthood. Quality of life was assessed in 112 adult DSD patients. Both 46,XX and 46,XY DSD patients with male sex social (n=28) had better general quality of life than those with female social sex (n=84) (P<0.05). In conclusion, DSD patients showed good social, professional and sexual integration at adulthood showing the importance of a multidisciplinary approach to the treatment of the disorders of sex development.

Declaration of interest: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Funding: No specific grant from any funding agency in the public, commercial or not-for-profit sector.

Generously supported by the Clinical Endocrinology Trust.

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