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Published-Ahead-of-Print September 20, 2006, DOI:10.2164/jandrol.106.000786

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Hypogonadism and reduced bone mineral density in heterozygous H63D mutation in the HFE gene: an unusual presentation of hereditary hemochromatosis

Cristiano M Francucci *, Cristina Gatti , Andrea Camilletti , Paola Fiscaletti , Renata Caudarella , and Marco Boscaro

* To whom correspondence should be addressed. E-mail: cm.francucci{at}ao-umbertoprimo.marche.it.

Objective. Hereditary haemochromatosis (HH) results in excess iron absorption from the diet and its deposition in body tissues, including the liver, joints, pancreas and pituitary gland, with consequent tissue damage leading to the typical presentations of cirrhosis, arthralgia and hypogonadism. Human iron homeostasis depends on the coordinated functions of numerous genes, the precise roles of which are in many cases still obscure. In HH transferrin saturation values > 45% are an indication for genetic testing. HH should be considered if suggestive clinical and/or laboratory test abnormalities are found, in spite of normal transferrin saturation, particularly if heterozigosity exists for the H63D mutation that usually has a low frequency and penetration and, as a result, a minor phenotypic expression. Findings. Since heterozigosity H63D mutation does not appear to have clinical effects, the history of this proband, a male patient with transferrin saturation < 45%, marked increase of ferritin levels, reduced bone mass, and hypogonadism, that appears to be uncommon in patients with lesser degree of hepatic siderosis at diagnosis, represents an atypical case in which the transferrin saturation failed to identify the correct diagnosis. Conclusion. Considering the presence of subjects with normal values of transferrin saturation and a variable degree of clinical expressiveness in heterozygous H63D mutation, like our proband, it is conceivable to propose genetic testing in symptomatic men with high values of ferritin (>300 mcg/L), after ruling out possible secondary causes of hyperferritinemia, in order to identify individuals with hereditary haemochromatosis and prevent or minimize iron-related organ injury.


Key words: bone mineral density • hereditary hemochromatosis • hypogonadism • hypopituitarism • osteoporosis






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Copyright © 2006 by The American Society of Andrology.