AN INVESTIGATION INTO GONADAL DYSFUNCTION IN PATIENTS WITH IDIOPATHIC HAEMOCHROMATOSIS

SUMMARY Endocrine studies were performed on twelve patients with proven idiopathic haemochromatosis. Basal gonadotrophin levels and/or their responses to LH releasing hormone (LHRH) were low in nine patients, all of whom showed low plasma testosterone levels and clinical evidence of hypogonadism. Those patients with normal gonadotrophin responses had higher testosterone values, suggesting that the poor testosterone secretion was primarily due to inadequate trophic stimulation. No patient showed hypothyroidism of hypothalamic‐pituitary origin, while the cortisol response to hypoglycaemia was normal in all six patients studied. GH responses were more variable and difficult to interpret, since the number of the patients studied was small and the degree of hypoglycaemia after insulin was unpredictable. While hypogonadism is extremely common in patients with long‐standing idiopathic haemochromatosis (Bricaire et al ., 1971), there is some controversy as to its cause. Suggested aetiologies include functional disturbance at the hypothalamic or pituitary level (Tourniaire et al ., 1974; Stocks & Powell, 1972), primary gonadal failure (Simon et al ., 1972), or a combination of both (Simon et al ., 1972; Walker et al ., 1976). In an attempt to evaluate this problem, we have studied plasma gonadotrophin responses to both LH releasing hormone (LHRH) and clomiphene, and the plasma testosterone basally and after human chorionic gonadotrophin (HCG) in patients with proven haemochromatotis. The results of certain other tests of anterior pituitary function are also reported.