Endocrine Abstracts

Hypogonadism is the most common non-diabetic endocrinopathy in patients with hereditary haemochromatosis (HH). A recent review suggests a prevalence of hypogonadism in males with haemochromatosis to be 6.4%.¹ We report three patients with HH in whom hypogonadism was not due to iron deposition.

Patient 1 was homozygous for C282Y and liver biopsy revealed grade III siderosis without cirrhosis. His testosterone was borderline low (6.7 nmol/l), and FSH and LH were appropriately elevated. Karyotype analysis confirmed the clinical impression of Klinefelter’s syndrome.

Patient 2 was homozygous for C282Y, with liver biopsy showing grade III siderosis and cirrhosis. He had a similar phenotype and hormonal profile to patient 1 and karyotyping again confirmed Klinefelter’s.

Patient 3 was a compound heterozygote (C282Y/H63D). Ferritin was elevated (547 ng/ml) and liver biopsy showed grade II siderosis without cirrhosis. FSH, LH and testosterone were low. The absence of cirrhosis and the modest elevation of ferritin raised doubt that HH was responsible for the hypogonadism.¹ On direct questioning, the patient admitted to chronic high dose use of androgenic anabolic steroids while representing Ireland in weight-lifting in the recent past.

In our large series of patients with HH, hypogonadism was due to causes other than iron deposition in 25% of cases.¹ These cases underscore the importance of careful evaluation of hypogonadism in HH.

1. McDermott JH, Walsh CH. Hypogonadism in Hereditary Haemochromatosis. J Clin Endocrinol Metab 2005; 90(4): 2451–2455