Endocrinopathies and growth in a UK cohort of children with transfusion dependent thalassaemia.

Endocrine complications are recognised in transfusion-dependent thalassaemia (TDT), largely due to iron overload. This is the first study in the United Kingdom evaluating growth and endocrine outcomes in children with TDT at a UK tertiary centre. This observational cohort study included 50 individuals aged 2-25 years with TDT under a paediatric haemoglobinopathy service. Data up to 18 years of age were collected retrospectively and prospectively. Short stature was defined as height standard deviations score (SDS) <-2. Disproportionate truncal shortening was defined as leg length (LL) SDS minus sitting height (SH) SDS >1. Twelve (24%) patients had short stature (height SDS <-2) and only one was short for parental height. 23/29 (79.3%) had disproportionate truncal shortening with LL SDS-SH SDS >1. There was no difference in height SDS, SH SDS, LL SDS-SH SDS when comparing those with the highest average liver iron concentration (24.03 mg/g dry weight) to those with the lowest (5.04 mg/g dry weight). One had growth hormone deficiency with central hypothyroidism. Hypogonadism, thyroid dysfunction and impaired glucose tolerance were rare in our cohort. In this UK cohort, short stature was mostly familial, and endocrinopathies were uncommon, possibly reflecting optimised transfusion and chelation practices. In contrast, truncal shortening is common.