Journal of Clinical Endocrinology & Metabolism, Vol 76, 357-361, Copyright © 1993 by Endocrine Society

ARTICLES

Multiple hormone deficiencies in children with hemochromatosis

KE Oerter, GA Kamp, PJ Munson, AW Nienhuis, FG Cassorla and PK Manasco
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

Patients with thalassemia major require multiple blood transfusions leading to hemochromatosis. These patients often have pubertal delay and growth failure, the etiology of which has not been fully elucidated. We performed an extensive endocrine evaluation which included measurements of spontaneous and stimulated levels of gonadotropins, GH, thyroid hormone, and adrenal hormones in 17 patients between the ages of 12 and 18 yr with hemochromatosis receiving desferoxamine therapy. All of the 17 patients had at least one endocrine abnormality, and 12 had more than one abnormality. Abnormalities of the hypothalamic-pituitary-gonadal axis were the most common. Six patients had clinical evidence of delayed puberty with spontaneous and stimulated gonadotropin and sex steroid levels appropriate for their delayed pubertal stage. All 14 children in puberty LH pulsatility index below the mean for pubertal stage compared to normal children. Six of the 14 had LH pulsatility index more than 2 SD below the mean for pubertal stage. This may be an indicator of abnormal pituitary function. Six patients failed either the provocative GH tests (peak GH < 7 micrograms/L) or had a mean spontaneous GH less than 1 microgram/L. The 4 patients who failed provocative tests had growth velocities more than 2 SD below the mean for bone age. Three patients had evidence of primary hypothyroidism. We conclude that all patients with hemochromatosis need periodic careful endocrine evaluations because the incidence of endocrine dysfunction is substantial and they may benefit from hormonal therapy.

This article has been cited by other articles:

				A. El Beshlawy, G. Mohtar, E. Abd El Ghafar, S. M. Abd El Dayem, M. H. El Sayed, A. A. Aly, and M. Farok Assessment of Puberty in Relation to L-carnitine and Hormonal Replacement Therapy in {beta}-thalassemic Patients J Trop Pediatr, July 22, 2008; (2008) fmn043v1. [Abstract] [Full Text] [PDF]

				M. I. Argyropoulou, Z. Metafratzi, D. N. Kiortsis, S. Bitsis, A. Tsatsoulis, and S. Efremidis T2 Relaxation Rate as an Index of Pituitary Iron Overload in Patients with {beta}-Thalassemia Major Am. J. Roentgenol., December 1, 2000; 175(6): 1567 - 1569. [Abstract] [Full Text] [PDF]

				M. J Tweed and J. M Roland Lesson of the week: Haemochromatosis as an endocrine cause of subfertility BMJ, March 21, 1998; 316(7135): 915 - 916. [Full Text]