Understanding, Communication and Concerns Around Sexual Development Differences by Patients’ Perspectives

Introduction: The approach to Differences of Sexual Development (DSD) patients is complex. It involves discussion on karyotype, gonads, genital phenotypes, hormonal treatment, genitoplasty, sexual activity and fertility. A satisfactory understanding by the patients optimize the follow up and the acceptance of the condition. Objective/Methods: To analyze the understanding of DSD patients about their condition, the doubts and concerns, the barriers to communication and repercussion in gender, sexual orientation and relationships in a cohort of patients followed at a reference center, through a semi directed interview. Results: 57 patients were interviewed. The mean ages were 36.5y. Around 90% of all patients concluded at least the high school. Only 50% of all patients knew the condition’s name and how they were affected by it. Still 92% knew the treatment. 63% of the patients presented doubts, mainly related to diagnosis. The median level of satisfaction about the condition understanding (on a scale from 1 to 5) was 4. Most of the patients were first informed by doctors (65%) or mothers (27%). The mean age of diagnostic disclosure was 13 y among patients with atypical genitalia. However, 67% of them preferred be first informed in childhood. Around communication, 60% of them reported no dialogue at home about the condition, 82% feel uncomfortable in talking to other people and 57% experienced negative comments related to DSD. Only four 46,XY DSD presented gender dysphoria: 3 with partial gonadal dysgenesis (who were admitted at the reference service after genitoplasty) and one 5-α-reductase 2 deficiency. About affective relationships, 42% of the patients were single and 70% had already experienced sexual activity. The mean age at first sexual activity was 22y. 72% considered that condition influences negatively on relationships because the stigma, the genitalia appearance, the insecurity in sexual intercourse and fertility. The concern related to stigma was higher among patients with atypical genitalia. The patients’ self-evaluation (scale from 0 to 10) about their condition understanding improved after the interview: 6 to 8.9 (p<0.01). Conclusion: There is lack of knowledge about DSD among patients even treated in a referral center. The atypical genitalia arouses curiosity and stigma. Educational acts for patients, health team and community are needed to make DSD conditions popular, to improve the understanding and communication and to decrease the stigma.