Short stature in betathalassemia major: a multifactorial condition
Alice Albu1, Anca Zirnea1, Florentina Vladareanu2, Daniela Voicu2, Larisa Nitu2, Suzana Florea1 & Simona Fica1,3
Short stature is a frequent finding among patients with beta-thalassemia major, with a major impact on the quality of life and a multifactorial aetiology.
Aim: To study the relationship between growth retardation of thalassemic patients and associated sistemic conditions and endocrine complications.
Subjects and methods: Cross-sectional study on 59 patients with βthalassemia major who did not reach their final height, with a mean age of 17.37±6.53 years. All patients were evaluated by clinical, biochemical and hormonal parameters.
Results: Short stature, defined as height more than 2.5 S.D. below the mean for chronological age was found among 62.7% of the patients. Growth failure was significantly associated with lower serrum Hb levels (P<0.005), higher mean ferritin values (P<0.05), higher mean transaminase levels (P<0.0001 and P<0.05 for AST and ALT respectively) and early form of hypogonadism (delayed and arrested puberty) (P<0.05). All hypogonadic patients had hypogonadotropic hypogonadism.
IGF1 was measured in a subgroup of 19 thalassemic patients. We found that patients with short stature had significantly lower values of IGF1 compared with those with adequate height (58.61±24.1 vs 207.4±124.5, P<0.005). Six of the patients with impaired growth were also evaluated for GH reserve by provocative tests and all of them had subnormal GH responses (peak GH values <10 ng/ml).
In our study group 15.5% of the patients presented mild types of primary hypothyroidism (mean TSH 5.8±1.24 μU/ml) without any significant association with short stature.
Conclusions: Our results support the involvement of chronic anemia, iron overload, hepatic dysfunction and early form of hypogonadism as pathogenic factors of short stature in thalassemic patients. Although data regarding GH reserve and IGF1 levels are provided by a small group of patients, they suggest that impaired GHIGF1 axis may be a major contributor to impaired growth.