Clinical Trials / Research Studies
Clinical Trials / Research Studies

A Study to Examine Genes That May Be Involved in Patients Diagnosed With a Difference of Sex Development (DSD)

Why are we doing this research?

The DSD Center at Cincinnati Children's is part of the DSD-Translational Research Network (DSD-TRN), a network of US teams working together to improve healthcare for people with DSD. In this research, we examine the genes involved in patients diagnosed with a DSD. Some genes for DSD have already been identified, but new discoveries are being made and genes we do not know about may be identified in the future.

The purpose of this research is to allow the DSD team at Cincinnati Children's and the DSD-TRN to collect biospecimen samples and potentially use these in the future to study genes that may be involved in DSD. This knowledge may help us understand more about DSD and improve care for our patients and their families.

Who can participate?

Children and adults of all ages who have been diagnosed with a DSD may be eligible to participate.


  • Diabetes

What will happen in the study?

This study is a repository (sample collection/storage) study. Participants will have one blood draw. We will collect 2-5 mL (<1/2 tsp to 1 tsp) for children and 5-10 mL (1-2 tsp) for adults. The blood sample will be stored in a biobank for future use.

Young adults or parents interested in having their child participate will be given a consent form that thoroughly explains all the details of the study. A member of the study staff will review the consent form with you and will be sure that all of your questions are answered.

What are the good things that can happen from this research?

You or your child may not have a direct medical benefit. However, the information we obtain from this study may help us discover new genes involved in DSD care, and thus may benefit you or other patients with DSD in the future.

What are the bad things that can happen from this research?

There is very little risk to participants in this research study. We will discuss possible risks and discomforts with parents or guardians interested in learning more about the study.

Will you/your child be paid to be in this research study?

There is no cost to participate in the study, and participants will not receive payment to take part.


Contact Us.
Study Team

Study Doctor

Contact Us.Meilan Rutter, MD
Division of Endocrinology
Cincinnati Children’s Hospital Medical Center