Endocrine Abstracts

Introduction: Anaemia and other haematological disorders have been reported in Turner Syndrome (TS). TS-related comorbidities (premature ovarian insufficiency, autoimmune hypothyroidism, coeliac disease and liver diseases) and treatments (hormone replacement [HRT] and growth hormone) are possible explanations. We aim to investigate the prevalence of abnormal full blood count (FBC) in adult TS and assess associated clinical characteristics.

Methods: FBC parameters and clinical characteristics were retrospectively collected from the electronic patient records of 120 adult TS women attending a dedicated TS clinic.

Results: Median age was 34 years (IQR 27.25-49) and 45, X was the commonest karyotype (n= 46, 38%). The most frequent abnormality in the most recent FBC was an elevated red blood cell (RBC) count in 25% (n=30), elevated mean cell haemoglobin (Hb) concentration in 19% (n=23) and/or elevated Hb in 9% (n=11). While some results were isolated when compared to previous FBCs, seven patients (6%) had elevated Hb and RBC count on more than one occasion. Associated conditions included primary hypothyroidism on treatment in 2, structural renal abnormalities in 2, and non-alcoholic fatty liver disease without significant liver impairment in 5. None were smokers or had a diagnosis of obstructive sleep apnoea. Six were of premenopausal age and on HRT (progestogens; medroxyprogesterone, levonorgestrel, or norethisterone; none received testosterone analogues) with 4 having regular withdrawal bleeding, while 1 patient was of postmenopausal age and no longer on HRT. Amongst TS patients on HRT, 51% had elevated Hb, haematocrit, RBC count, mean cell Hb and/or mean cell Hb concentration, compared to 45% not on HRT. Amongst TS patients who had NAFLD, 70% had elevated Hb, haematocrit, RBC count, mean cell Hb and/or mean cell Hb concentration compared to 44% amongst those without any liver disease. Six patients (5%) had recurrent anaemia (microcytic in 2, normocytic in 4). Half had a 45, X karyotype, 1/6 was on HRT, 4/6 had regular periods or withdrawal bleeds. Three women had been diagnosed with iron deficiency, associated with gastro-oesophageal reflux disease in 2.

Discussion: While our cohort shows a similar prevalence of anaemia in TS to a recent large observational study, the finding of elevated red cell parameters in the context of TS is novel and deserves further analysis in larger studies. Exploring the association between the abnormal red cell parameters and levels of sex hormones, EPO levels, Jak2 status as well as TS-associated conditions is warranted in the future.