Women with Turner Syndrome (TS), characterised by the complete or partial absence of one X-chromosome in females, are reported to have an increased risk of coeliac disease, inflammatory bowel disease and angiodysplasia. These may contribute to iron deficiency and anaemia through malabsorption or blood loss. This study screened the serum ferritin and haemoglobin measurements in an adult TS population.
Serum ferritin concentrations were measured in 180 women in the Adult Turner Clinic (median age 27.8, range 16.8-56.7 years). These were correlated with haemoglobin concentration, mean red cell volume (MCV), karyotype and various clinical parameters.
This cohort included one patient with known ulcerative colitis, two with Crohn's disease, and one with coeliac disease. Median (range) ferritin concentration in the cohort was 26 (4-142 micrograms/l), haemoglobin 13.7 concentration (10.5-15.5 g/dl) and MCV 90.3 (66.2-100.0 fl) (normal laboratory ranges were ferritin concentration 7-204 micrograms/l, haemoglobin concentration 11.5-15.5 g/dl and MCV 80-99 fl). Ferritin concentration was positively correlated with weight (Spearman's rho= 0.164, p= 0.042), height (r= 0.207, p= 0.011) and haemoglobin (r= 0.359, p= 0.004), but not MCV. With reference to various clinical guidelines for ferritin concentration, this was found to be <7 micrograms/l in 6.1% of women, <25 micrograms/l in 47.2% and <70 micrograms/l in 88.9%, whilst the median haemoglobin was well within the normal range. No association was found between ferritin and age, height, weight, BMI, karyotype, previous oestrogen or growth hormone use. There was an inverse correlation between haemoglobin and height (r= -0.285, p= 0.035).
Clinically significant anaemia and microcytosis are rare but iron deficiency appears to be common in adults with TS. Further studies are required to elucidate whether oral iron supplementation is beneficial. Screening for coeliac disease may be indicated.
24 - 26 Mar 2003
British Endocrine Societies