Endocrine Abstracts

Introduction: Long-term increased morbidity and mortality in Turner Syndrome (TS) due to vascular disease is recognized, and suggested risk factors include metabolic parameters and possible change in haemostasis, however elevated red cell parameters in women with TS have not previously been noted.

Methods: Following an observation of unexplained occurrence of elevated hemoglobin, a quality improvement-project was conducted to retrospectively review full blood count (FBC) parameters of patients attending a dedicated TS clinic.

Results: The cohort included 120 patients; median age 34(27-49)years, median age at diagnosis of TS 13(7-17)years and median body-mass-index (BMI) 26.9(22.9-31.7) Kgm². 45,X was the commonest karyotype [46(34.1%)] and most were on HRT(57.8%); majority being on topical(83.1%), estrogen and progesterone combination(84.6%) with 65.2% on medroxyprogesterone. Twenty-five percent had primary hypothyroidism (PH) and 19.3% had non-alcoholic fatty liver disease (NAFLD). Of the total, 6 patients had anemia (3/6 confirmed iron deficiency), 25(47.2%) patients had at least a single abnormally elevated RBC parameter in consecutive FBCs whilst 7(5.8%) had ≥2 abnormally elevated parameters (out of hemoglobin, hematocrit, RBC count). Of these 7 patients (median age 37.5[31,47]years and median BMI 30.7[22,36.6] Kgm²), none had a history of thrombosis, smoking or evidence of obstructive sleep apnea. All except one were on combined HRT with monthly withdrawal bleeding, 4/7 had congenital non-cyanotic structural heart disease, 3/7 had PH, 3/7 had NAFLD and 1/7 had coeliac disease. Median of RBC parameters among these patients; hemoglobin 156[154,160]g/l, hematocrit 0.46[0.44,0.47]L/l, RBC count 5.08[5.01,5.24] x10^12/l. Specialized hematological evaluation awaited.

Conclusions: Consistently abnormally elevated RBC-parameters occurred in 5.8% of women with TS without any clinically obvious explanation. Larger cohort studies are needed to explore this observation, it’s possible pathogenesis and any long-term influence on morbidity.