Research

Our team is involved in a variety of collaborative DSD-related research, including genetics, genomics and psychosocial studies, with the goal of helping to improve patient care.

If you are interested in participating in any of these studies, please contact us at dsd@wustl.edu.

Current research

Short Term Outcomes of Interventions for Reproductive Dysfunction

The objectives of this study are to evaluate the cosmetic outcomes, complications and psychological outcomes of genitoplasty surgery in children less than 2 years old for disorders of sex development.

This project is a collaboration between Paul Austin, MD (co-investigator), and Amy Wisniewski, PhD (Oklahoma University).

Retrospective Review of DSD Cases

Jennifer Heeley, MD (Pediatrics/Clinical Genetics), Ina Amarillo, PhD (Genomics), and the DSD team are reviewing the cases of individuals with DSD who have been seen at St. Louis Children’s Hospital since 1995. We would like to find out:

  1. What diagnoses and types of DSD we see the most.
  2. How each type of DSD has been managed.
  3. If other medical problems go along with the different types of DSD.
  4. How individuals with DSD fare in the long term.
  5. If there are any challenges we can better address.

This information will help us improve the care of our DSD patients now. In the future, we would like to expand this review into a survey. This will help us gather the opinions of individuals with DSD about their care and how we can improve.

We are currently recruiting subjects to participate in these studies. If interested, please contact dsd@wustl.edu.

Bridging Genomics and Epigenomics in DSD

This is a collaborative effort between Ina Amarillo, PhD (Genomics), Ting Wang, PhD (Epigenomics), Jennifer Heeley, MD and the Clinical Genetics team.

The goals of this study are to:

1. Integrate genomic and epigenomic profiles of DSD genes.

2. Establish a tissue and DNA repository.

We are currently recruiting subjects to participate in these studies. If interested, please contact dsd@wustl.edu.

DSD Translational Research Network (DSD-TRN)

The DSD Team at Washington University is now part of a national multi-institutional research network, the DSD-TRN. This group is based at UCLA under the direction of Dr. Eric Vilain (UCLA) and Dr. David Sandberg (University of Michigan). The Washington University study site is led by Paul Austin, MD (Urology), and Ina Amarillo, PhD (Genomics) (co-principal investigators), and assisted by Jennifer Heeley, MD (Pediatrics/Clinical Genetics).

These institutions are collaborating to achieve the following goals:

1. Investigate the genetic causes and the psychological consequences of DSD.

2. Use the acquired data to provide standard and better healthcare for patients with DSD.

We are currently recruiting subjects to participate in these studies. If interested, please contact dsd@wustl.edu.

Past research

Hypospadias

Hypospadias is a malformation that affects the urethral tube and the foreskin on a male’s penis. The urethra is the tube that carries urine from the bladder to the outside of the body. The following are studies regarding this condition:

Austin PF, Siow, Y, Fallat, ME, Rink, RC, Cain, MP and Casale, AJ: The Relationship between Müllerian Inhibiting Substance and Androgens in Boys with Hypospadias. J Urol, 168:1784-1788, 2002. View in PubMed.

Cox, M.J., Coplen, D.E. and Austin PF: The incidence of disorders of sexual differentiation and chromosomal abnormalities in cryptorchidism and hypospadias stratified by meatal location. J Urol, 180 (6):2649-52, 2008. View article.