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.
Disease Information
Differences of sex development (DSD) and hypospadias are conditions that affect the development of the genital and urinary tissues.
It is estimated that 30-50% of individuals with DSD and/or hypospadias have an underlying genetic cause for their conditions. Learn more about differences of sex development/severe hypospadias.
Key Outcomes
To date, 15% of patients received genetic diagnoses, several of which resulted in changes in treatment plans.
Genes of Interest
AKR1C2 AR ATRX CBX2 CYP11B1 CYP21A2 DHH DMRT1 FGF9 GATA4 HSD17B3 MAP3K4 NR0B1 (DAX1) NR5A1 (SF1) RSP01 SOX9 SRD5A2 SRY WNT4 WNT7A WT1
Participate in Research
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.
Patient Care
Patients and their families with DSD/hypospadias can be seen by an expert multidisciplinary team in the Behavioral Health, Endocrinology, Gynecology, Urology (BEING-U) program at Boston Children’s. Learn more about differences of sex development/severe hypospadias.
Investigators
Divisions
Notable Publications by Investigators
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis authored by Chan in collaboration with the congenital diarrheas and enteropathies cohort, describing a novel genital/gonadal phenotype.