J Korean Endocr Soc.  2006 Dec;21(6):560-566.

A Case of Familial Multiple Endocrine Neoplasia with MEN1 Gene Mutation

• Sung HY
• Chun YJ
• Lee H
• Kwon BJ
• Park KW
• Lee JM
• Moon SD
• Chang SA
• Han JH

Abstract

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder that's characterized by the combined occurrence of primary hyperparathyroidism, endocrine pancreatic tumors and anterior pituitary adenomas, but such manifestations as carcinoid tumors, adrenal adenoma and lipoma are also seen. We report here on a case of a 52-years old man with MEN type 1. He had a parathyroid adenoma, empty sella and a non-functioning pancreatic and adrenal mass. On the genetic analysis, he was proven to have a mutation in the MEN1 gene (exon 2, 200-201, INS AGCCC). On the family study for the mutation, one of his siblings and his son proved to have the same mutation.

Keyword

Hyperparathyroidism; MEN1 gene; Multiple endocrine neoplasia type 1

MeSH Terms

Adenoma
Carcinoid Tumor
Humans
Hyperparathyroidism
Hyperparathyroidism, Primary
Lipoma
Male
Middle Aged
Multiple Endocrine Neoplasia Type 1*
Multiple Endocrine Neoplasia*
Parathyroid Neoplasms
Pituitary Neoplasms
Siblings

Figure

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  Fig. 1 Thyroid sonography showed 1×1.5 cm heterogenous low echogenic mass in the upper pole of the left thyroid lobe.

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  Fig. 2 A, 99m Tc-sestamibi scan showed diffuse uptakes in the both thyroid lobe and a nodular hot uptake in the upper pole of left thyroid lobe in early image (15 minutes); B, In delayed image (2 hours), there was a hot uptake in the upper pole of left thyroid lobe suggesting presence of parathyroid adenoma. In addition, it was observed tiny nodular uptakes in the other lobes suggesting parathyroid hyperplasia.

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  Fig. 3 Sellar MRI showed empty sella (arrow).

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  Fig. 4 Abdominal computed tomography showing (A) about 2.8 cm sized well enhancing mass was noted in the right adrenal gland (arrow) and (B) 1 cm sized well enhancing round nodule was also noted in pancreatic tail (arrow).

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  Fig. 5 Direct sequencing analysis of the PCR product containing ten exons of the MEN1 gene from the patient and his sibling. The nucleotide sequences of the wild-type allele and the mutated allele are shown. The insertion of AGCCC was noted between 200 and 201.

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  Fig. 6 family pedigree of the patient (arrow). One of his siblings and his son were detected the same mutation (arrow head). Filled symbols indicates members with MEN1 gene mutation. The asterisk indicates subjects with DNA testing. DM, diabetes mellitus.

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