ESPE Abstracts

Introduction: Turner syndrome is frequently associated with autoimmune diseases. Systematic and early detection of these autoimmune diseases allows for better management. We present a clinical case report illustrating the auto-immune diseases in Turner syndrome.

Case report: a 7-year-old girl was diagnosed with Turner syndrome since the age of one year. Initially, she presented a lymphoedema of the hands and feet, short stature (<-2 SD), pterygium coli, low implanted ears, and multiple nevi on the body. The karyotype showed 45X. the ophthalmological exam was normal. We didn’t detect a surdity. The echocardiogram and reno-vesical ultrasound were normal. Screening for autoimmune diseases revealed type I diabetes at the age of one year with positive anti-insulin, anti-IA2 and anti-GAD antibodies. The Hashimoto's thyroiditis was detected at the age of 2 years with elevated Thyroid-stimulating hormone and a positive antithyroperoxidase antibodies. The antitransglutaminase antibody tests were requested. They returned positive with a high level of 90 IU/ml. Consequently, a digestive fibroscopy and histological analysis were performed, confirming the diagnosis of celiac disease by demonstrating total villous atrophy. Furthermore, we detected an Addison disease at the age of 5 years with low cortisol level and aldosterone, and elevated ACTH and renine. The synacthen stimulation test failed to stimulated cortisol. The treatment included a gluten free diet, levothyroxine for hypothyroid deficiency, basal bolus insulinotherapy for diabetes and hydrocortisone fludrocortisone for adrenal insufficiency with good outcomes.

Conclusion: Screening for autoimmune diseases in Turner syndrome is essential for the proper management of these patients.