Endocrine Abstracts

Introduction: There is limited literature on autoimmune haematological disorders (AIHD) such as autoimmune thrombocytopenia (ITP), autoimmune haemolytic anaemia, and autoimmune neutropenia (AN) in Turner syndrome (TS) although autoimmune disorders are more common in TS.

Methodology: Retrospective analysis of a clinic database, to identify patients with AIHD out of all the patients followed up in a specialised TS clinic. (n= 168) (Audit number– 8394)

Results: Three patients were identified out of 168 patients. Karyotypes were 45,X; 45,X/46,X i(Xq); and 45,X/46,XX. Ages at presentation with AIHD were 34 - 38 years. Two patients developed AIHD (one ITP and one AN) during the follow-up for TS. A further patient initially presented with ITP and was diagnosed with TS following a bone marrow biopsy performed for ITP. Presenting symptoms were ecchymosis and gum bleeding (ITP) and recurrent sore throat and sinusitis (AN). Platelet counts were 2 x 10 9/l and 28 x 10 9/l (ITP) and Neutrophil count was 0.1 x 10 9/l (AN). Treatment received were high dose prednisolone (n=1) Rituximab (n=1) and granulocyte colony-stimulating factor (n=1). All three responded and there were no relapses. One had autoimmune hypothyroidism and others had no autoimmune disorders and had negative TPO and TTG antibodies.

Conclusion: Current guidelines do not recommend routine monitoring of full blood count in TS. AIHD are serious conditions and affected 1.67 % of our cohort with TS. AIHD can occur in women with TS, even in the absence of other autoimmune conditions or commonly seen autoantibodies. Our report highlights the importance of maintaining a high level of suspicion of AIHD in TS patients regardless of karyotype to ensure prompt diagnosis and appropriate treatment to prevent potentially life-threatening complications of pancytopenia.