Secondary infertility as early symptom in a man with multiple endocrine neoplasia-type 1

Multiple endocrine neoplasia-type 1 (MEN1) is an autosomal dominant familia l cancer syndrome characterized by parathyroid hyperplasia, pancreatic endo crine tumours and pituitary adenomas, Here, we report a patient with a hist ory of insulinoma who developed secondary infertility as a further symptom of the disease. When he was first examined at the age of 36 years, he compl ained of weakness, reduced libido and impotence. Laboratory evaluation reve aled non-obstructive azoospermia and hyperprolactinaemia, In contrast to se xual activity and serum prolactin, semen quality did not significantly resp ond to bromocriptine therapy. During follow-up, a growing pituitary adenoma caused acromegaly with elevated serum concentrations of growth hormone, in sulin-like growth factor 1 (IGF-1), and prolactin, After microsurgery of th e tumour at the age of 44 years, sperm concentration persistently increased up to 5.6 x 10(6)/ mi, In accordance with the clinical diagnosis of MEN1, DNA sequencing revealed a mutation in exon 2 of the menin gene which result s in a truncated, inactive protein product. In conclusion, MEN1 with pituit ary lesions may cause severe hypogonadism and infertility, Both hyperprolac tinaemia and overproduction of growth hormone and IGF-1 seem to be involved in testicular dysfunction in the present case. The possible role of menin in the testis, however, remains to be elucidated.