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Short stature in homozygous β‐thalassaemia is due to disproportionate truncal shortening
Author(s) -
Rodda C. P.,
Reld E. D.,
Johnson S.,
Doery J.,
Matthews R.,
Bowden D. K.
Publication year - 1995
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.1995.tb02684.x
Subject(s) - medicine , short stature , sitting , cohort , pediatrics , bone age , endocrinology , gastroenterology , pathology
Summary BACKGROUND and objective Growth failure In homozygous β‐thalassaemia has been recognized for many years, and has persisted despite major treatment advances. In this cross‐sectional study, sitting and standing height were measured to determine whether growth failure was disproportionate. DESIGN Patient data were analysed In three age groups, 2‐10 years, 11‐18 years and 19 and over. Sitting height and sublschlal leg length were also determined In a cohort of parents ( n = 19) and normal Greek adolescents ( n = 32). PATIENTS AND MEASUREMENTS Of the known 156 patients with homozygous β‐thalassaemla In the State of Victoria, 154 (98.7%) attend our Institution. Sitting and standing heights were measured, using Harpenden stadlometers, In 57 of 60 (95%) patients aged 2‐18 years and in a random selection of 51 of 89 patients aged 19 and over (57%). Measurements are expressed as mean ± SDS. Other data analysed Included serum concentrations of ferritin, zinc, copper, FSH, LH, oestradlol and testosterone, according to standard laboratory assays, together with pubertal status and bone age in patients aged less than 19 years. RESULTS Standing height standard deviation scores in the 2–10 age group were −0.687 ± 0.861 ( n = 9), in the 11–18 age group were −1.838 ± 1.413 ( n = 48) and In the age group 19 and over were −1.175 ± 1.126. In Individuals aged 2–10 years, sitting height standard deviation scores (SDS) were −1.56 ± 1.02, In Individuals 11–18 years were −3.76 ± 1.51 ( n = 48), and In individuals 19 years and over were −2.77 ± 1.20 ( n = 51), compared with sublschlal leg length SDS which were, In Individuals aged 2–10 years 0.214 ± 0.91; In 11‐18 years, −0.063 ± 1.347, and In individuals 19 and over, 0.37 ± 1.18. These data show that the reduction in standing height was the result of truncal shortening. Mean sitting height SDS was significantly lower In children with homozygous β‐thalassaemla, compared with their parents ( P < 0.001), and in a subgroup of Greek adolescents with homozygousβ‐thalassaemia compared with age and sex matched normal Greek adolescents ( P < 0.001). No correlation was found between truncal shortening and other clinical and biochemical variables measured. CONCLUSIONS Short stature In our patients with homozygous β‐thalassaemla is due to disproportionate truncal shortening. The aetiology of truncal shortening in this patient group is likely to be multifactorial, although hypogonadism and chelation therapy may be contributory factors.