A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma

[摘要] We report of a male patient aged 32 years who presented with primary hyperparathyroidism. Three parathyroid glands wereresected. At the age of 46 years, nervus facialis irritation was noted, and an MRI scan incidentally revealed a non-functioningpituitary adenoma with affection of the chiasma opticum. The patient underwent transsphenoidal operation resulting inpituitary insufficiency postoperatively. At the same time, primary hyperparathyroidism reoccurred and a parathyroidadenoma located at the thymus was resected. The mother of the patient died early due to multiple tumors. The patient wassuspected to have multiple endocrine neoplasia type 1 (MEN1) and genetic analysis was performed. In addition, on clinicalexamination, multiple exostoses were noticed and an additional genetic analysis was performed. His father was reported tohave multiple osteochondromas too. MEN1 was diagnosed in the patient showing a novel heterozygote mutation c.2TOA inexon 2, codon 1 (start codon ATGOAAG;p.Met1?) of the MEN1 gene. In genetic mutational analysis of the EXT1 gene,another not yet known mutation c.1418-2AOC was found in intron 5 of the EXT1 gene (heterozygotic). In conclusion,we report novel mutations of the EXT1 and the MEN1 genes causing hereditary multiple osteochondromas and MEN1in one patient.

[学科分类] 血液学

[关键词] Adult;Male;White;Germany;Bone;Parathyroid;Pituitary;Pituitary;MEN1;Hyperparathyroidism (primary);Pituitary adenoma;Non-functioning pituitary adenoma;Hereditary multiple osteochondroma;Osteoporosis;Visual field defect;Skeletal deformity;Bone pain;Genetic analysis;Testosterone;IGF1;FT4;Prolactin;Visual field assessment;Immunohistochemistry;PTH;Calcium (serum);phosphate (serum);Sestamibi scan;CT scan;X-ray;Octreotide scan;Ultrasound scan;Endosonography;Transsphenoidal surgery;Levothyroxine;Testosterone;Hydrocortisone;Glucocorticoids;Calcitriol;Gastroenterology;Unique/unexpected symptoms or presentations of a disease;March;2015