Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.
Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural "Turner Resource Network (TRN) Symposium" brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome; investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population.
Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Philippe F
PF
Backeljauw
Endocrine Branch NICHD, National Institutes of Health, Bethesda, Maryland.
Carolyn
C
Bondy
The Children's Hospital at Oklahoma University, Oklahoma City, Oklahoma.
Steven D
SD
Chernausek
Children's Mercy Hospital, Kansas City, Missouri.
Joseph T
JT
Cernich
Hagley Museum and Library in Wilmington, Wilmington, Delaware.
David A
DA
Cole
Turner Syndrome Foundation, Inc., Hazlet, New Jersey.
Laura P
LP
Fasciano
Internal Medicine, New Haven, Connecticut.
Joan
J
Foodim
Stowers Institute for Medical Research, Kansas City, Missouri.
Scott
S
Hawley
Stanford University, Palo Alto, California.
David S
DS
Hong
Department of Psychiatry, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Rebecca C
RC
Knickmeyer
National Human Genome Research Institute NIH, Bethesda, Maryland.
Paul
P
Kruszka
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts.
Angela E
AE
Lin
David Geffen School of Medicine at UCLA, Los Angeles, California.
Barbara M
BM
Lippe
Department of Chemistry and Biochemistry, Miami University, Oxford, Ohio.
Gary A
GA
Lorigan
Oregon Health and Sciences University School of Medicine, Portland, Oregon.
Cheryl L
CL
Maslen
Nemours Children's Clinic, Jacksonville, Florida.
Nelly
N
Mauras
Whitehead Institute, Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts.
David C
DC
Page
National Heart Lung and Blood Institute, NIH, Bethesda, Maryland.
Victoria L
VL
Pemberton
University of Texas, Houston, Texas.
Siddharth K
SK
Prakash
Pediatric Endocrinology, Indiana University School of Medicine, Indianapolis, Indiana.
Charmian A
CA
Quigley
Turner Syndrome Global Alliance, Overland Park, Kansas.
Kelly C
KC
Ranallo
Center for Interdisciplinary Brain Sciences Research, Stanford University, Palo Alto, California.
Allan L
AL
Reiss
Department of Pediatrics, Child Health Evaluation and Research (CHEAR) Unit, University of Michigan, Ann Arbor, Michigan.
David E
DE
Sandberg
Turner Syndrome Society of the United States, Houston, Texas.
Cindy
C
Scurlock
Oregon Health and Sciences University School of Medicine, Portland, Oregon.
Michael
M
Silberbach
D003695:Delivery of Health Care / Q000379:methods; D005260:Female; D036281:Genetic Research; D006302:Health Services Research / Q000379:methods; D006801:Humans; D012042:Registries; D012730:Sex Chromosomes / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics*
Turner syndrome; chromosome; congenital heart disease; genetics; monosomy X; neurodevelopment; quality of life; sex chromosomes; women; women's health