Genetic Modifiers and Glycemic Variability in Turner Syndrome


This study is looking at glucose (blood sugar) patterns in participants with Turner Syndrome between the ages of 3-80 years old. This will be done by obtaining 2 hours frequent blood sampling by completing an Oral Glucose Tolerance Test and a Mixed Meal Tolerance Test. Participants will also wear a continuous glucose monitor for 2 weeks. Along with the OGTT and MMTT, participants are asked to provide a blood sample for DNA and RNA testing. Participant’s parents are asked to provide a saliva sample for DNA testing

I'm interested

Male or Female
Not specified
This study is NOT accepting healthy volunteers
Inclusion Criteria:

• Participants with a diagnosis of Turner syndrome by karyotype
• Ages 3 to 80
Exclusion Criteria:

• Additional genetic diagnosis detected on karyotype, CMA, or FISH
• Prior diabetes diagnosis
• Current or recent (last 72 hours) use of systemic glucocorticoids
• Current use of hypoglycemic agents
• History of solid organ or bone marrow transplant
• Currently pregnant
• Non English-speaking

Diabetes & Endocrine, Rare Diseases

Turner Syndrome

Kyriakie Sarafoglou -
Kyriakie Sarafoglou