Cohort profile: pathways to care among people with disorders of sex development (DSD).

PURPOSE: The 'DSD Pathways' study was initiated to assess health status and patterns of care among people enrolled in large integrated healthcare systems and diagnosed with conditions comprising the broad category of disorders (differences) of sex development (DSD). The objectives of this communication are to describe methods of cohort ascertainment for two specific DSD conditions-classic congenital adrenal hyperplasia with 46,XX karyotype (46,XX CAH) and complete androgen insensitivity syndrome (CAIS). PARTICIPANTS: Using electronic health records we developed an algorithm that combined diagnostic codes, clinical notes, laboratory data and pharmacy records to assign each cohort candidate a 'strength-of-evidence' score supporting the diagnosis of interest. A sample of cohort candidates underwent a review of the full medical record to determine the score cutoffs for final cohort validation. FINDINGS TO DATE: Among 5404 classic 46,XX CAH cohort candidates the strength-of-evidence scores ranged between 0 and 10. Based on sample validation, the eligibility cut-off for full review was set at the strength-of-evidence score of ≥7 among children under the age of 8 years and ≥8 among older cohort candidates. The final validation of all cohort candidates who met the cut-off criteria identified 115 persons with classic 46,XX CAH. The strength-of-evidence scores among 648 CAIS cohort candidates ranged from 2 to 10. There were no confirmed CAIS cases among cohort candidates with scores <6. The in-depth medical record review for candidates with scores ≥6 identified 61 confirmed cases of CAIS. FUTURE PLANS: As the first cohort of this type, the DSD Pathways study is well-positioned to fill existing knowledge gaps related to management and outcomes in this heterogeneous population. Analyses will examine diagnostic and referral patterns, adherence to care recommendations and physical and mental health morbidities examined through comparisons of DSD and reference populations and analyses of health status across DSD categories.

Systematic review of sexual function and satisfaction following the management of vaginal agenesis.

Historically, sexual satisfaction following the management of vaginal agenesis was assessed subjectively. Standardized sexual function questionnaires are being used more frequently as instruments to accurately and more objectively assess the subjective nature of sexual outcomes as part of a more holistic approach to the care of women with vaginal agenesis. Articles concerning the management of vaginal agenesis were systematically reviewed, with specific focus on those that discussed functional outcomes, sexual satisfaction and psychosomatic outcomes, and in particular attempted to measure these outcomes. A total of 6,691 articles on vaginal agenesis were identified, with 106 of these reporting sexual satisfaction and psychosomatic outcomes. Only 1 randomized control trial (RCT) was identified, the remaining articles being made up of case series or case reports. Only 17 articles used standardized objective assessment of sexual satisfaction. While the bowel technique had the longest vaginal length at 12.87 cm, it had the most number of complaints of dyspareunia (4.8%), stenosis (10.5%) and the lowest average subjective sexual satisfaction. The Davydov method used standardized sexual function assessments most frequently. This technique had a higher average score than both the bowel vaginoplasty technique in the only RCT and the Vecchietti method in a prospective assessment. Overall, the management of vaginal agenesis requires a multidisciplinary approach to fully support these patients from initial diagnosis, through management decision-making and long-term follow-up, through transition to adulthood.

Amative orientation: the hormonal hypothesis examined.

The hypothesis that human male and female amative orientation, arousal and courtship are sex-hormone dependent had as its precursor John Hunter's recorded but unpublished 18th century experiments of cross-sexed gonadal transplants in chicks. The hypothesis gained momentum in the 20th century after the discovery and eventual marketing of the sex hormones, and after the experimental demonstration by William C. Young that, in guinea-pigs, cross-sexed hormone administered prenatally influenced their subsequent male/female courtship and mating behavior. Comparatively and in review, human clinical syndromes of hypermasculinization and hypomasculinization do not disconfirm the hormonal hypothesis, but they do not adequately confirm it, either. They are compatible with the idea of a cofactor that governs whether amative orientation in practice, ideation and imagery is homosexual, heterosexual or bisexual.

Adult erotosexual status and fetal hormonal masculinization and demasculinization: 46,XX congenital virilizing adrenal hyperplasia and 46,XY androgen-insensitivity syndrome compared.

Among 30 young women with a history of the treated adrenogenital syndrome (CVAH), 11 (37%) rated themselves as bisexual or homosexual. Among a control group consisting of 15 women with the 46,XY androgen-insensitivity syndrome (AIS) plus 12 with the Rokitansky syndrome (MRKS), the corresponding figure was 2 (7%), both bisexual. Chi-square was significant beyond the 0.01 level. In Kinsey's 1953 sample 15% of women experienced homoerotic arousal imagery by age 20, and 10% had had homoerotic partner contact. The most likely hypothesis to explain the CVAH findings is that of a prenatal and/or neonatal masculinizing effect on sexual dimorphism of the brain in interaction with other developmental variables.