Adolescent Medicine
Cardiology
Children with Chronic Conditions
Community Pediatrics
Cross-Disciplinary Pathway
Developmental and Behavioral Pediatrics
Endocrinology
General Pediatrics
Genomics/Epigenomics
Mental Health
Neonatology
Well Newborn
Shanlee Davis, MD, PhD
Assistant Professor
University of Colorado School of Medicine
Denver, Colorado, United States
Turner syndrome occurs in 1 in 2,000 females and is more consistently being diagnosed in younger children due to increased pre- and post-natal genetic testing. In 2017, International Clinical Practice Guidelines detailing the multisystemic manifestations and care recommendations for girls and women with TS were published. This session will feature multidisciplinary experts in TS clinical care who will provide relevant information on the following topics:
- Genetics of TS, genetic testing recommendations, genotype-phenotype relationships, and considerations for low-level monosomy X mosaicism.
- Management of short stature, diagnosis and treatment of delayed puberty, screening for cardiometabolic conditions, and other endocrinologic care in TS.
- Congenital and acquired cardiovascular conditions requiring lifelong surveillance.
- Hearing loss and other otolaryngologic concerns in TS.
- Neurodevelopmental, cognitive, and social-emotional profiles, screening, and interventions for girls with TS.
- Fertility preservation options for girls at risk for primary ovarian insufficiency, including oocyte cryopreservation and ovarian tissue cryopreservation (OTC).
Each presentation will focus on clinical implications for pediatric patients informed by the consensus guidelines and contemporary research. Hot topics, emerging approaches, and current gaps in knowledge will be discussed throughout the session. A Q&A discussion will follow all presentations.
Speaker: Susan Howell, MS, CGC, MBA – University of Colorado School of Medicine
Speaker: Jennifer M. Barker, MD – University of Colorado School of Medicine
Speaker: Kathryn C. Chatfield, MC, PhD – University of Colorado Anschutz
Speaker: Christina Rasmussen, AuD – Children's Hospital Colorado
Speaker: Christa Hutaff-Lee, PhD ABPP-CN – Children's Hospital Colorado/Univ of Colorado