• Eight patients with β-thalassemia who were given long-term treatment with combined multiple transfusions and chelation therapy underwent adrenal testing. The six male and two female patients ranged in age from 7 to 19 years. Six of eight patients had delayed bone ages and height greater than 2.5 SDs below the mean. Of the six patients more than 13 years of age, two had clinical evidence of isolated adrenarche and only one had evidence of true puberty. Cortisol levels were similar in patients and controls at zero time (10.6±1.8 μg/dL [292±50 nmol/L] vss 10.8±1.4 μg/dL [298±39 nmol/L]) and at 60 minutes (26.6±2.5 μg/dL [734±69 nmol/L] vs 24.9±1.9 μg/dL [687±52 nmol/L]) after insulin hypoglyemia (all values are the mean ±SE). During an eight-hour infusion of ACTH, cortisol responses in the patients with thalassemia were not significantly different from those of controls. Baseline levels of the adrenal androgens dehydroeplandrosterone (DHEA) and dehydroeplandrosterone sulfate (DHEA-S) were significantly lower in the subjects with thalassemia compared with controls of similar bone age and pubertal status. The prolonged ACTH infusion caused a significant increase in the DHEA level (79.2±14.7 ng/dL [2.74±0.51 nmol/L] vs 538.6± 38.1 ng/dL [18.67±4.79 nmol/L]) and the DHEA-S level (37.5±10.8 μg/dL [1.02± 0.29 µmol/L] vs 70.5±18.3 μg/dL [1.19± 0.50 μmol/L]) in the patients. The patients' peak stimulated levels of DHEA-S were significantly lower than those of the controls, whereas peak levels of DHEA were similar in the patients and the controls. These results indicate that combined multiple transfusions and chelation therapy preserve the integrity of the ACTH-cortisol axis in patients with thalassemia. The reduced levels of adrenal androgens, short stature, and delayed puberty noted in our patients suggest, however, that alternative approaches to the therapy of thalassemia are needed.
Sklar CA, Lew LQ, Yoon DJ, David R. Adrenal Function in Thalassemia Major Following Long-term Treatment With Multiple Transfusions and Chelation Therapy: Evidence for Dissociation of Cortisol and Adrenal Androgen Secretion. Am J Dis Child. 1987;141(3):327–330. doi:https://doi.org/10.1001/archpedi.1987.04460030105036
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