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Study Objective: To understand young women's experiences of receiving a diagnosis related to diverse sex development., Design: A qualitative narrative analysis of interviews., Setting: Karolinska University Hospital., Participants: Nine women (aged 20-26 years) with complete androgen insensitivity syndrome, XY or XX gonadal dysgenesis., Interventions: Semistructured interviews., Main Outcome Measures: A narrative approach was used to analyze the interviews. This involved identification of individual narratives of receiving the diagnosis, as well as identification of key issues that were common across interviews., Results: The analysis showed how participants' prediagnosis life experiences framed how medical information was perceived upon diagnosis. All participants had been informed about their condition before the study, but not all remembered the name of their diagnosis. Participants described positive characteristics of health professionals, such as being flexible and able to adapt to patients' individual needs. Clinicians' strategies, such as normalizing patients' experiences, were usually perceived as supportive, but were not always considered helpful. After the diagnosis, participants were worried about potential social, practical, and philosophical issues., Conclusion: This research highlighted the importance of clinicians taking an exploratory and individualized approach to the sensitive process of disclosing a diagnosis related to diverse sex development to young adults. There are various strategies health professionals can use that might help young people to develop their knowledge about their condition: (1) repeating information to help the patient remember; (2) using language that is not too medicalized; and (3) communicating in a way that is meaningfully connected to patients' everyday lives., (Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Androgens, estrogens, and sex chromosomes are the major influences guiding sex differences in brain development, yet their relative roles and importance remain unclear. Individuals with complete androgen insensitivity syndrome (CAIS) offer a unique opportunity to address these issues. Although women with CAIS have a Y chromosome, testes, and produce male-typical levels of androgens, they lack functional androgen receptors preventing responding to their androgens. Thus, they develop a female physical phenotype, are reared as girls, and develop into women. Because sexually differentiated brain development in primates is determined primarily by androgens, but may be affected by sex chromosome complement, it is currently unknown whether brain structure and function in women with CAIS is more like that of women or men. In the first functional neuroimaging study of (46,XY) women with CAIS, typical (46,XX) women, and typical (46, XY) men, we found that men showed greater amygdala activation to sexual images than did either typical women or women with CAIS. Typical women and women with CAIS had highly similar patterns of brain activation, indicating that a Y chromosome is insufficient for male-typical human brain responses. Because women with CAIS produce male-typical or elevated levels of testosterone which is aromatized to estradiol these results rule out aromatization of testosterone to estradiol as a determinate of sex differences in patterns of brain activation to sexual images. We cannot, however, rule out an effect of social experience on the brain responses of women with CAIS as all were raised as girls., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Objective: The aim of this study was to assess the quality of life and psychosocial well-being in women with disorders of sex development (DSD)., Design: An open case-control study., Methods: Social and psychiatric information was collected via a structured interview from 70 Danish women diagnosed with DSD, 70 controls matched on sex, age, and school education, and six women with isolated genital malformations. Quality of life and mental distress were assessed by 'Quality of Life-Assessment of Growth Hormone Deficiency in Adults' (QoL-AGHDA) and three symptom scales from the 'Hopkins Symptom Checklist' (SCL-90-R; i.e. somatization, depression, and anxiety) respectively. For both measures, higher scores reflected poorer outcomes., Results: Present relationships and having children were less frequent in patients than in controls (P = 0.02 and P < 0.001 respectively). Previous suicidal thoughts (P = 0.002) and a higher frequency of psychological/psychiatric counseling for severe problems (P = 0.06) were more frequently reported in patients than in controls. The mean QoL-AGHDA score was significantly higher in patients than in controls (5.5 vs 2.9; P = 0.002), especially for congenital adrenal hyperplasia (CAH) females (P = 0.01) and virilized 46,XX and 46,XY females (P = 0.04). The total SCL score was higher in patients than in controls (mean 23.2 vs 20.0), reaching significance for anxiety (mean 6.3 vs 4.3, P = 0.03) with highest score in CAH (P = 0.01)., Conclusion: An impaired quality of life and more affective distress were observed especially in CAH patients and virilized 46,XX and 46,XY females. This may be caused by trauma from distressing diagnostic procedures, the chronic illnesses per se, and psychosocial consequences of the disorders.

Objective: To investigate sexual function in women with complete androgen insensitivity syndrome (CAIS) and to investigate the prevalence of factors that might contribute to sexual difficulties., Design: Cross sectional survey and clinical examination., Setting: Tertiary hospital multidisciplinary intersex clinic and an international peer support group for CAIS., Patient(s): Sixty-six adult women with CAIS., Intervention(s): Self-completed survey of sexual function, genital normality perceptions, and compliance and satisfaction with vaginal hypoplasia treatments. Hospital case notes review, and genital examination for prevalence of vaginal and clitoral hypoplasia., Main Outcome Measure(s): Golombok-Rust Inventory of Sexual Satisfaction (GRISS) scores of study participants were compared against the scores of the test validation population (as control). In physical examination participants, anatomical dimensions were assessed against published normal values for clitoral and vaginal sizes., Result(s): We found that 90% of women with CAIS in this study had sexual difficulties when compared with the general female population, most commonly sexual infrequency and vaginal penetration difficulty; 77% perceived their vagina as small, but on genital examination only 35% had vaginal hypoplasia., Conclusion(s): Androgen deficiency leads to sexual problems. Vaginal hypoplasia and negative psychological adaptation to living with an intersex condition are likely to have contributed to the high rates of sexual problems found in this study. Treatments for vaginal hypoplasia need to be evaluated with outcome studies of long-term sexual function, quality of life, and satisfaction. Clinical services for the management of intersex conditions need to be multidisciplinary and aim to optimize the patient's physical and psychological health.