Gonadotroph tumor associated with multiple endocrine neoplasia type 1.
Although anterior pituitary tumors constitute a main clinical feature of multiple endocrine neoplasia type 1 (MEN1), and most types of pituitary tumors have been associated with MEN1, gonadotroph tumors have not previously been recognized clinically as part of this syndrome. We report here a woman who presented with ovarian hyperstimulation due to a gonadotroph tumor that was confirmed biochemically and immunohistochemically. She then developed hyperparathyroidism, and she was found to have three hypercellular parathyroid glands. Subsequently, she developed a temporal lobe metastasis of the gonadotroph tumor, demonstrating that it was a gonadotroph carcinoma. The diagnosis of MEN1 was confirmed by finding a deletion mutation (c.307delC) on the second exon of the MEN1 gene that predicts truncation of the resulting menin protein 15 codons downstream from the deletion (p.Leu103fsX15). This case illustrates that gonadotroph tumors, like other pituitary tumors, can be part of MEN1. The clinical implications of this case are that the clinical and biochemical features of gonadotroph tumors should be considered when evaluating patients for MEN1, and MEN1 should be considered in patients who have gonadotroph tumors.
Benito
Maria
M
Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104-6149, USA.
Asa
Sylvia L
SL
Livolsi
Virginia A
VA
West
Valerie A
VA
Snyder
Peter J
PJ
D000328:Adult; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000209:etiology; D018761:Multiple Endocrine Neoplasia Type 1 / Q000150:complications*; D010280:Parathyroid Glands / Q000473:pathology; D010911:Pituitary Neoplasms / Q000209:etiology* / Q000473:pathology; D011518:Proto-Oncogene Proteins / Q000235:genetics; D013702:Temporal Lobe / Q000473:pathology
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins