Disorders of Sex Development: A Clinician Survey

Project start date and end date: 2003 – Present

Background:
Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Clinical care for affected children is a contentiously debated topic. Since the mid-1950s the dominant policy has been to assign children born with atypical genitalia to the gender that carries the "optimal" prognosis for a stable gender identity and the capacity for full sexual function. Assumptions regarding the optimal care of children with DSD are now being fundamentally challenged both within and outside of the professional community (i.e. clinicians, researchers, social scientists and patient advocacy groups).

Objectives:

1. Ascertain opinion and treatment recommendations regarding the clinical management of children born with varying DSD.
2. Serve the function of characterizing the state of current practice and elucidating clinicians' beliefs and attitudes that support decision-making practices for children diagnoses with a DSD.
3. Serve as a benchmark to gauge effects of recommended changes in clinical care.

Research Topics & Methods:
Data were collected through an online survey at two points in time: 2003-04 and 2010-11. A third wave is scheduled for 2019. Participants include key clinical decision makers for this patient population; pediatric endocrinologists and pediatric urologists. The survey comprises several DSD case vignettes for which participants are asked to make recommendations regarding gender of rearing, genital surgery and its timing, and disclosure of diagnosis details to the patient, and its timing. Participants are also queried regarding factors they believe contribute to positive quality of life outcomes for these affected persons.

Implications:
Findings to date suggest substantial variability both within and between specialists in recommendations regarding clinical care. Because both surgeons and endocrinologists are key providers in DSD care, the differences in recommendations, unassociated with specifics of the case, are worrisome.

Funder:
The project is funded by the Genentech Foundation for Growth and Development and through intramural research funds of the Department of Pediatrics, Michigan Medicine.

Collaborators:
Melissa Gardner, CHEAR; Sheri A. Berenbaum, Penn State; Barry A. Kogan, Albany Medical College; Peter A. Lee, Penn State Hershey Medical Center