Current Research Studies

Differences of Sex Development: Translational Research Network


What is the goal of the study?

Differences of sex development (DSD) affect approximately 1% of humans. They include sexual ambiguities and malformations of genitalia often discovered at birth; delayed puberty discovered at adolescence, and infertility detected at the adult stage. These differences result from an abnormal development of the reproductive tract. This can be very traumatic for the patient and the patient’s family because they not only have a physical or functional malformation, but also they have numerous psychological consequences; ie, dealing with sexual identity and the inability to procreate. While there are many causes for sexual ambiguities and reduced fertility, no specific gene mutations have been demonstrated in a majority of patients. Understanding these pathologies is also the first step toward appropriate therapy, which include appropriate gender assignment. This study will build a registry of participant information to increase knowledge and understanding of the multiple implications of different DSD. Participants will be evaluated and followed in clinic per standard of care; their pertinent clinic information will be entered into the DSD study registry if they consent/assent to participation. As part of clinical care, participants may have a DNA sample analyzed for a mutation in a gene known to be involved in DSD. If no gene mutation is identified via standard of care testing, additional DNA (new draw or previously banked at SCH) may be sent to Children's National Medical Center (CNMC) with the parent’s consent for research purposes. Exome sequencing will then be performed on DNA from participants so that new candidate genes can be explored. Some genes may be analyzed for copy number variants. The specimen will be stored in the biorepository at CNMC. In some cases, clinical standard of care is to draw blood from unaffected family members (parents as well as other family members) to help determine whether a mutation found in the patient is indeed relevant to the disorder, and not a simple polymorphism segregating in the family. If there are more than one affected member in the family, and blood has not been drawn for analysis under standard of care procedures, family members (affected and unaffected by DSD) may be asked to have blood drawn and sent to the specialized lab at CNMC to confirm significance for research purposes. This will hopefully lead to the identification of new candidate genes involved in sexual development. (Note: At SC, we will only draw parents as the family members for now-other family members may be added later.) Information about patient diagnosis and clinical findings found in the medical record (ie, genetic, laboratory, phenotype, psychosocial) will be entered into a registry held at the coordinating center (UCLA).

Who can participate in the study?

Please contact the study team listed below to learn more.

Study Team: