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

Hum Reprod. 1999 Jan;14(1):252-4. doi: 10.1093/humrep/14.1.252.

Abstract

Multiple endocrine neoplasia-type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by parathyroid hyperplasia, pancreatic endocrine tumours and pituitary adenomas. Here, we report a patient with a history 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 complained of weakness, reduced libido and impotence. Laboratory evaluation revealed non-obstructive azoospermia and hyperprolactinaemia. In contrast to sexual activity and serum prolactin, semen quality did not significantly respond to bromocriptine therapy. During follow-up, a growing pituitary adenoma caused acromegaly with elevated serum concentrations of growth hormone, insulin-like growth factor 1 (IGF-1), and prolactin. After microsurgery of the tumour at the age of 44 years, sperm concentration persistently increased up to 5.6 x 10(6)/ml. In accordance with the clinical diagnosis of MEN1, DNA sequencing revealed a mutation in exon 2 of the menin gene which results in a truncated, inactive protein product. In conclusion, MEN1 with pituitary lesions may cause severe hypogonadism and infertility. Both hyperprolactinaemia 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.

Publication types

  • Case Reports

MeSH terms

  • Adenoma / complications
  • Adenoma / surgery
  • Adult
  • Bromocriptine / therapeutic use
  • Erectile Dysfunction / etiology
  • Exons
  • Hormone Antagonists / therapeutic use
  • Humans
  • Hyperprolactinemia / drug therapy
  • Hyperprolactinemia / etiology
  • Male
  • Multiple Endocrine Neoplasia Type 1 / complications*
  • Multiple Endocrine Neoplasia Type 1 / genetics
  • Mutation / genetics
  • Mutation / physiology
  • Neoplasm Proteins / genetics
  • Oligospermia / etiology*
  • Pituitary Neoplasms / complications
  • Pituitary Neoplasms / surgery
  • Postoperative Period
  • Proto-Oncogene Proteins*
  • Sperm Count

Substances

  • Hormone Antagonists
  • MEN1 protein, human
  • Neoplasm Proteins
  • Proto-Oncogene Proteins
  • Bromocriptine