Introduction: Beta-thalassaemia major is an inherited anemia which requires chronic transfusions and is frequently associated with endocrine dysfunctions secondary to iron overload. The aim of this study was to identify the prevalence of various endocrine complications in beta-thalassaemia major children over a period of 14 years and the factors associated with them.
Materials and methods: 61 children with BTM (mean age 12.23 years) registered at the Endocrinology Department of Elias University Clinical Hospital from February 2004 to March 2017 were evaluated and data related to chelation and transfusion treatment were collected.
Results: From 61 children, 33 (54.1%) were girls and 28 (45.9%) were boys. Seventeen (27.9%) had short stature. Eight of the patients (13.1%) were diagnosed with hypothyroidism. Hypogonadotropic hypogonadism was the diagnosis in 12 children (34.3%) aged 12 years and more. The most prevalent type of hypogonadism was delayed puberty, documented in 6 (17.1%) children. Ferritin levels were significantly higher in patients with short stature compared with those with normal stature (2457.67 ng/ml vs 1296.47 ng/ml, P=0.001). However, no association between serum ferritin concentration and the presence of hypothyroidism or hypogonadism was found. The presence of either hepatitis B or C was not associated with short stature, hypogonadism or hypothyroidism. Children with hypogonadism started the transfusion treatment at a younger age compared with eugonadic ones (8 months vs 33 months, P=0.05).
Conclusion: Endocrine complications occur with a high prevalence in Romanian beta-thalassaemic children, hypogonadism being the most frequent. High levels of serum ferritin were associated with the presence of short stature. Transfusional treatment started at a younger age was more prevalent in children with hypogonadotropic hypogonadism.
Keywords: thalassaemia, endocrinopathies, iron overload.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology