Seohyon Lee
Research Mentor(s): David Sandberg
Mentor Department: Pediatrics
Authors: Isabel Lee, Brian Magaswaran, Melissa Gardner, David Sandberg, Erica Weidler, Erica Weidler
Session: Session 2 (10:00am – 10:50am)
Presentation Type: Poster 69
Abstract
Introduction: Differences in sex development (DSD) is an inherited rare medical condition that
results in atypical chromosomal development, genital appearance, or sexual functions.
Individuals with DSD and their caregivers experience diverse challenges from both medical care
and psychosocial concerns, quality healthcare, and well-being, which should be evaluated and
enhanced through research and education of the public.
Methods: A survey of patient and parent needs and research priorities was developed in
conjunction with DSD patient and family support and advocacy organization (SAO) leadership.
Leaders distributed links to the web-based survey to their board members and membership,
where applicable. Overall, 286 participants recruited through five organizations (Beautiful You
MRKH Foundation, n=197; Hypospadias and Epispadias Association, n=55; dsdfamilies, n=6;
MAGIC Foundation, CAH Division, n=23; Accord Alliance, n=6) responded to the survey.
Participants included both those with a DSD condition (n= 209) and parents of those with a DSD
condition (n=79); two of whom were members of both categories.
Results: The top three most frequent challenges that individuals with DSD or their children
experienced were mental health concerns (68.5%), fertility and sexual function (66.8%), and
relationships and dating (60.1%). When asked to rate how different challenges affected their, or
their child’s, well-being on a 5-point scale where 1 = ‘not affected at all’ and 5 = ‘significantly
affected’, the mean participant rating was 3.7 (SD=1.1). There was a statistically significant
relationship between the total number of challenges a person has experienced and the degree
to which these challenges have affected their well-being [r(284) = 0.555, p<0.001].
The top three most frequently sought resources for support and information were online
communities or forums (77.3%), followed by healthcare professionals (66.8%), and mental
health professionals (45.8%). Furthermore, the top three most frequently offered resources for
support and information were online communities or forums (61.5%), followed by healthcare
professionals (39.2%), and friends and family (36.7%). Interestingly, and across all categories of
resources, the number of resources offered to patients and families was statistically significantly
lower than the amount they sought [t(285) = 12.1, p<.001]. A minority (6.3%) of participants
reported they had not sought any informational or support resources in relation to their own or
their child’s condition. Significantly more (16.8%) reported they had not been offered any [t(285)
= 5.2, p <.001].
Conclusions: Most participants reported multiple challenges related to their or their child’s
condition and its management with mental, physical, and psychosocial/relationship concerns at
the forefront. These challenges significantly impacted their well-being. Prior research indicates
that providing sufficient support and resources can enhance the quality of life and resilience.
However, our findings highlight a clear discrepancy between the support participants sought and
what was actually offered.
