Louise Clare Pyle, MD, PhD

Director, Positive Reevaluation of Urogenital Differences (PROUD) Clinic

Medical Geneticist

Louisa (Louise) C. Pyle, MD, PhD, is a clinical geneticist and physician scientist specializing in genetics of genitourinary (GU) differences and cancer. She completed her pediatrics and medical genetics training at the Children's Hospital of Philadelphia in 2016.

Dr. Pyle’s clinical interests are on diagnostic evaluation and care for individuals with intersex (I) and disorders of sex development (DSD) traits, and other GU differences. She is part of the Children's National PROUD Clinic, where she focuses on multidisciplinary integration, molecular diagnosis and cancer predisposition counseling for her patients and their families. 

Dr. Pyle’s research applies genomics and human models to understand vulnerability to infertility and germ cell tumor (GCT). She has identified and characterized clinical risk factors that predispose people to GCT by studying individuals diagnosed with this malignancy, as well as patients carrying a diagnosis of I/DSD. Dr. Pyle’s goal is to supply new tools that will facilitate improved care for people with I/DSD traits.

Publications

ORCiD

• Rare Disease Institute-Genetics and Metabolism
• Positive Reevaluation of Urogenital Differences (PROUD) Clinic