GH/IGF-1 axis in a large cohort of ss-thalassemia major adult patients: a cross-sectional study

Purpose GH deficit (GHD) could represent an endocrine issue in ss-Thalassemia Major(ssTM) patients. GH/IGF-1 axis has not been extensively explored in ssTM adults, so far. We aim to assess GHD and IGF-1 deficiency prevalence in ssTM adult population, focusing on the relationship with liver disease. Methods Cross-sectional multi-centre studyconducted on 81 adult ssTM patients (44 males, mean age 41 +/- 8 years) on transfusion and chelation therapy. GHD was investigated by GHRH + arginine test. IGF-1 levels, routine biochemical exams, Fibroscan, Hepatic Magnetic Resonance Imaging (MRI) and pituitary MRI were collected. Results Eighteen patients were affected by GHD and 63 were not (nGHD) according to GHRH + arginine test, while basal GH levels did not differ. GHD was associated with a higher BMI and a worse lipid profile (p < 0.05). No significant differences were observed regarding liver function between the two groups. Pituitary MRI scan was normal except for one case of empty sella. The 94.4% and 93.6% of GHD and nGHD, respectively, presented lower IGF-1 levels than the reference range, and mean IGF-1 SDS was significantly lower in GHD patients. Conclusion GHD is frequent in adult ssTM patients and is associated with higher BMI and worse lipid profile. nGHD patients present lower IGF-1 levels as well. There was no relationship between IGF-1 levels and liver disease. Further, multicentric studies with larger cohorts and standardized diagnostic protocols are needed.