Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc
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Case Report

Volume 5, Number 11, November 2014, pages 596-600

Concurrent Type 2 Diabetes and Multiple Endocrine Neoplasia Type 1 With a Novel MEN1 Gene Mutation


Figure 1.
Figure 1. Family pedigree.
Figure 2.
Figure 2. Thyroid ultrasonography demonstrates two hypoechoic nodules behind the right thyroid gland and one hypoechoic nodule behind the left thyroid gland (Rt: 0.84 cm, 0.75 cm; Lt: 1.01 cm).
Figure 3.
Figure 3. 99m Tc-tetroformin parathyroid scan. (A) The early image (30 min) showed a nodular hot uptake in the lower portion of the right thyroid lobe. (B) The delayed image (2 h) showed hot uptake in the lower portion of the right thyroid lobe.
Figure 4.
Figure 4. Sequencing of exon 10 shows a frameshift mutation (c.1590_1606_del; p.Gly532AlafsX20). 1590: AGGTGGCAGCACGGCTC; 1606: AGGTGCCAGCACCCGCA.


P(2) hyperplasia
Table 1. Summary of 13 Cases of MEN1 gene Mutation Analysis Reported in Korea and Our Case
Case No.SexAge (years)ExonCodonMutationAssociation tumorDMReference
P(1): pituitary; P(2): parathyroid; P(3): pituitary; M: male; F: female.
1F22267Frameshift mutation
P(1) prolactin+No5
P(2) (-)
P(3) insulin+
2M709383Point mutation
P(1) (-)No6
P(2) adenoma
P(3) VIP+
39405Nonsense mutation
1213C > T
P(1) prolactin+Unknown7
P(2) hyperparathyroidism
P(3) somatostatin+
4267Frameshift mutation
P(1) non-functionUnknown7
P(2) hyperparathyroidism
P(3) non-function
57325Missense mutation
973G > C
P(1) prolactin+Unknown7
P(2) hyperparathyroidism
P(3) insulin+, glucagon+
67325Nonsense mutation
969C > A
P(1) prolactin+Unknown7
P(2) hyperparathyroidism
P(3) insulin+
7F507350Missense mutation
1159A > T
P(1) non-functionNo8
P(2) adenoma
P(3) non-function
8F827350Missense mutation
1159A > T
P(1) (-)No8
P(2) adenoma
P(3) non-function
9M513215Missense mutation
V215M, GTG- > ATG
P(1) (-)No9
P(2) hyperplasia
P(3) non-function
10F423551Frameshift mutation
P551R(del C)
P(1) (-)No10
P(3) (-)
11F231251Frameshift mutation
c.251_del; Ser84LeufsX35
P(1) prolactin+No11
P(2) adenoma
P(3) insulin+
12F463196Frameshift mutation
P(1) non-functionNo12
P(2) adenoma
P(3) calcitonin+
13M5210532Frameshift mutation
c.1590_1606_del; p.Gly532AlafsX20
P(1) (-)YesOur case
P(2) adenoma, hyperplasia
P(3) non-function