PROJECT SUMMARY/ABSTRACT
Differences of sex development (DSD) are heterogeneous conditions that involve discordance between
genetic, gonadal, or phenotypic sex evident at birth or through atypical development during puberty. DSD pose
unique clinical management and psychosocial challenges, including impairments to fertility, sexual and
urological function, atypical genitalia, increased incidence of gender identity incongruent with gender of rearing,
and at times, controversies about gonadectomy and/or genital surgery, which are often performed in infancy
before individuals with DSD can participate in decision-making or provide consent. Individuals with DSD are at
risk for mental health problems, including traumatic stress symptoms, anxiety, depression, and suicidality, but
little is known about relationships between medical care experiences and mental health. Although
interdisciplinary care is currently recommended for DSD, medical care remains variable and controversial, with
a paucity of data to guide empirically supported medical and psychosocial care practices. Some individuals
with DSD report devastating experiences related to their medical care including distress over a lack of
autonomy to make critical decisions about medical interventions performed for primarily psychosocial and non-
medical purposes (e.g., genital/gender-typifying surgeries performed in infancy) and frequent genital medical
exams and photography, often performed without clearly communicated rationales. A significant barrier to
understanding medical care practices, experiences, impacts, and patient needs is the lack of any patient-
centered, validated instruments specific to the DSD population to assess these issues and their relationships
with mental health, including traumatic stress symptoms. Using a community-based participatory research
approach and building on the foundation of our prior DSD research, we will develop, pilot, and establish initial
psychometrics for a novel youth self-report instrument which will assess DSD care-related preferences, needs,
experiences, and impacts on mental health among youth with DSD (ages 11-18 years). Specific aims include:
1) Convening a diverse Stakeholder Advisory Board consisting of youth with DSD, caregivers of youth with
DSD, adults with DSD, and DSD clinicians representing a range of specialties to identify key domains of
experiences and needs and item content identification to evaluate medical care experiences and their impacts
on well-being; 2) Refining items for comprehensibility, content validity, acceptability/cultural competence, and
coverage of key experiences through iterative cognitive interviewing; and 3) Evaluating initial psychometric
properties of the developed instrument, including test-retest reliability and convergent and criterion validity. Our
overarching objective is to expand access to personalized care in an underserved, vulnerable pediatric
population, youth with DSD, by identifying medical care practices associated with positive and poor adjustment
and informing tailored interventions to promote well-being.