About TS
Turner syndrome (TS) is a chromosomal disorder caused by a partially or completely missing X chromosome. This condition affects only females. Most people have 46 chromosomes in each cell—23 from their mother and 23 from their father. The 23rd pair of chromosomes are called the sex chromosomes—X and Y—because they determine whether a person is male or female. Females have two X chromosomes (XX) in most of their cells, and males have one X chromosome and one Y chromosome (XY) in most of their cells. A female with all of her chromosomes is referred to as having a 46,XX karyotype. A male has a 46,XY karyotype.
To the best of our knowledge, Turner syndrome cannot be prevented. It is a chromosomal disorder that is caused by a random error that leads to a missing X chromosome very early after conception.
Frequency of Turner Syndrome
Turner syndrome occurs in approximately 1 in 2,500 live female births worldwide, though many cases are undiagnosed or diagnosed late in life.
View Resource →History of Turners Syndrome
Henry Turner, MD, first described Turner syndrome in 1938, identifying short stature, webbed neck, and cubitus valgus. He was a pioneering endocrinologist.
View Resource →Hormones & Me: Turner Syndrome
An accessible patient-focused resource explaining Turner syndrome, hormone therapy, and long-term health management from Hormones & Me.
View Resource →InsighTS Research Video Series
TSGA hosts video calls with Turner syndrome researchers to share new findings. Watch past recordings here and follow TSGA on Facebook for upcoming announcements.
View Resource →Mayo Clinic: Turner Syndrome Overview
Mayo Clinic provides a comprehensive overview of Turner syndrome symptoms, causes, diagnosis, and treatment options for patients and families.
View Resource →Medical Symposium eBook (2014)
A comprehensive eBook from the 2014 TSGA Medical Symposium covering key clinical topics in Turner syndrome management and care.
View Resource →NCBI: Turner Syndrome Overview (2007)
A 2007 NCBI review article providing a detailed clinical overview of Turner syndrome, including karyotype variants and management strategies.
View Resource →NIH: Turner Syndrome Overview
The National Institutes of Health provides an authoritative overview of Turner syndrome, including genetics, symptoms, and current research.
View Resource →Turner Syndrome: Diagnosis and Management
A clinical guide covering the diagnosis and comprehensive management of Turner syndrome across the lifespan, from infancy through adulthood.
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