title: Multiple hormone deficiencies in children with hemochromatosis.
abstract: 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.
authors.affiliation: Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: K E
authors.initials: KE
authors.lastname: Oerter
authors.forename: G A
authors.initials: GA
authors.lastname: Kamp
authors.forename: P J
authors.initials: PJ
authors.lastname: Munson
authors.forename: A W
authors.initials: AW
authors.lastname: Nienhuis
authors.forename: F G
authors.initials: FG
authors.lastname: Cassorla
authors.forename: P K
authors.initials: PK
authors.lastname: Manasco
mesh_terms: D000293:Adolescent; D002648:Child; D003676:Deferoxamine / Q000627:therapeutic use; D004700:Endocrine System Diseases / Q000209:etiology*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D012739:Gonadal Steroid Hormones / Q000097:blood; D006128:Growth; D013006:Growth Hormone / Q000097:blood; D006432:Hemochromatosis / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D006801:Humans; D007037:Hypothyroidism / Q000150:complications; D007501:Iron / Q000378:metabolism; D007986:Luteinizing Hormone / Q000378:metabolism; D008297:Male; D010507:Periodicity; D010902:Pituitary Gland / Q000000981:diagnostic imaging / Q000378:metabolism; D011628:Puberty, Delayed / Q000209:etiology; D011859:Radiography; D013737:Testis / Q000000981:diagnostic imaging / Q000378:metabolism
chemical_list: D012739:Gonadal Steroid Hormones; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013006:Growth Hormone; D007501:Iron; D003676:Deferoxamine