Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients

Launched by IRCCS AZIENDA OSPEDALIERO-UNIVERSITARIA DI BOLOGNA · Dec 6, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a rare condition known as 46, XY DSD (Disorder of Sex Development), which affects how a person's sex is determined at birth. The goal is to better understand the characteristics of patients with this condition by looking at their genetic and physical traits. The study involves children and teenagers who were diagnosed with 46, XY DSD, and it aims to gather information from a large group of patients across different hospitals in Italy.

To be part of this study, participants need to have been diagnosed with 46, XY DSD before the age of 18 and show signs of genital ambiguity. There are no specific exclusions for this trial, making it open to a wider range of participants. If you or your child is eligible and chooses to participate, you can expect to share medical information and undergo assessments to help researchers learn more about this condition. The study is currently recruiting participants, and informed consent will be obtained from parents or guardians for younger patients.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Karyotype 46,XY DSD;
• • Genital ambiguity signs assessed on the basis of clinical phenotype and EMS/EGS for karyotype 46,XY DSD;
• • Age \< 18 years at diagnosis of 46,XY DSD;
• • Patients referred to the IRCCS Azienda Ospedaliero-Universitaria di Bologna since 01/01/1991 or to other participating centres since 01/01/2000;
• • Obtaining informed consent from patients or from parents/legal guardian of pediatric patients.
• Exclusion Criteria:
• • • None.