Is Cushing's Disease Associated with Turner Syndrome?
No, Cushing's disease is not associated with Turner syndrome—these are two distinct, unrelated conditions that can occur independently in the same patient.
Understanding the Two Conditions
Turner Syndrome
- Turner syndrome is a chromosomal abnormality (45X) characterized by short stature, webbed neck, lymphedema, and primary amenorrhea 1
- Approximately 30% of patients with Turner syndrome have congenital heart disease, most commonly coarctation of the aorta, bicuspid aortic valve, aortic stenosis, hypoplastic left heart, and ascending aortopathy 1
- Turner syndrome is listed among genetic syndromes "sometimes associated with diabetes" but not with Cushing's disease or Cushing's syndrome 1
Cushing's Disease
- Cushing's disease is caused by an ACTH-secreting pituitary adenoma, representing 75-80% of Cushing's syndrome cases in children/adolescents and 49-71% in adults 1
- The condition results from chronic excessive cortisol production, leading to multisystem complications including hypertension, metabolic syndrome, osteoporosis, and neuropsychiatric disorders 2, 3
- Cushing's disease has an incidence of approximately 0.5 new patients per million individuals per year 1
No Documented Association
Evidence Review
- None of the major endocrinology guidelines or consensus statements link these two conditions 1
- The 2024 consensus guideline for pituitary adenomas in childhood and adolescence makes no mention of Turner syndrome as a risk factor or associated condition for Cushing's disease 1
- The American Diabetes Association's classification of diabetes lists Turner syndrome among genetic syndromes associated with increased diabetes incidence, but does not connect it to Cushing's disease 1
- The American Heart Association/American College of Cardiology guideline on congenital heart disease describes Turner syndrome's cardiac manifestations but makes no reference to endocrine tumors or Cushing's disease 1
Clinical Implications
Coincidental Occurrence
- A patient could theoretically have both Turner syndrome and Cushing's disease as separate, unrelated conditions occurring by chance 1
- If a patient with Turner syndrome develops signs of hypercortisolism (weight gain with growth deceleration, hypertension, glucose abnormalities), evaluation for Cushing's syndrome should proceed using standard diagnostic algorithms 1, 4
Diagnostic Considerations
- In children with Turner syndrome who develop unexplained weight gain combined with either decreased height velocity or declining height percentile, screening for Cushing's syndrome is warranted using the same criteria as for any other child 1
- Standard screening includes 24-hour urinary free cortisol, late-night salivary cortisol, and/or dexamethasone suppression testing 1, 5, 2