This page is dedicated to the Differences of Sex Development/Severe Hypospadias research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Differences of Sex Development/Severe Hypospadias research study, established at Boston Children’s in 2019 and led by Drs. Joel Hirschhorn and Yee-Ming Chan, has already enrolled 35 patients and their families. The study aims to identify genetic causes of differences of sex development and severe hypospadias and provide personalized medicine.
Physicians may refer their patients with diagnoses of DSD or hypospadias to Drs. Hirschhorn and Chan. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Hirschhorn’s studies, including the DSD/hypospadias study, on the Hirschhorn Lab webpage and Dr. Chan’s research profile.