J Med Cases

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

Journal website http://www.journalmc.org

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 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. 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. Sequencing of exon 10 shows a frameshift mutation (c.1590_1606_del; p.Gly532AlafsX20). 1590: AGGTGGCAGCACGGCTC; 1606: AGGTGCCAGCACCCGCA.

**Table 1.** Summary of 13 Cases of *MEN1* gene Mutation Analysis Reported in Korea and Our Case
Case No.	Sex	Age (years)	Exon	Codon	Mutation	Association tumor	DM	Reference
P(1): pituitary; P(2): parathyroid; P(3): pituitary; M: male; F: female.
1	F	22	2	67	Frameshift mutation 200-201insAGCCC	P(1) prolactin+	No	5
P(2) (-)
P(3) insulin+
2	M	70	9	383	Point mutation GAC- > CAT	P(1) (-)	No	6
P(2) adenoma
P(3) VIP+
3			9	405	Nonsense mutation 1213C > T	P(1) prolactin+	Unknown	7
P(2) hyperparathyroidism
P(3) somatostatin+
4			2	67	Frameshift mutation 210-211insAGCCC	P(1) non-function	Unknown	7
P(2) hyperparathyroidism
P(3) non-function
5			7	325	Missense mutation 973G > C	P(1) prolactin+	Unknown	7
P(2) hyperparathyroidism
P(3) insulin+, glucagon+
6			7	325	Nonsense mutation 969C > A	P(1) prolactin+	Unknown	7
P(2) hyperparathyroidism
P(3) insulin+
7	F	50	7	350	Missense mutation 1159A > T	P(1) non-function	No	8
P(2) adenoma
P(3) non-function
8	F	82	7	350	Missense mutation 1159A > T	P(1) (-)	No	8
P(2) adenoma
P(3) non-function
9	M	51	3	215	Missense mutation V215M, GTG- > ATG	P(1) (-)	No	9
P(2) hyperplasia
P(3) non-function
10	F	42	3	551	Frameshift mutation P551R(del C)	P(1) (-)	No	10
P(3) (-)
11	F	23	1	251	Frameshift mutation c.251_del; Ser84LeufsX35	P(1) prolactin+	No	11
P(2) adenoma
P(3) insulin+
12	F	46	3	196	Frameshift mutation 196-200insAGCCC	P(1) non-function	No	12
P(2) adenoma
P(3) calcitonin+
13	M	52	10	532	Frameshift mutation c.1590_1606_del; p.Gly532AlafsX20	P(1) (-)	Yes	Our case
P(2) adenoma, hyperplasia
P(3) non-function

Table 1. Summary of 13 Cases of MEN1 gene Mutation Analysis Reported in Korea and Our Case

Case No.

Sex

Age (years)

Exon

Codon

Mutation

Association tumor

Reference

P(1): pituitary; P(2): parathyroid; P(3): pituitary; M: male; F: female.

Frameshift mutation
200-201insAGCCC

P(1) prolactin+

P(2) (-)

P(3) insulin+

383

Point mutation
GAC- > CAT

P(1) (-)

P(2) adenoma

P(3) VIP+

405

Nonsense mutation
1213C > T

P(1) prolactin+

Unknown

P(2) hyperparathyroidism

P(3) somatostatin+

Frameshift mutation
210-211insAGCCC

P(1) non-function

Unknown

P(2) hyperparathyroidism

P(3) non-function

325

Missense mutation
973G > C

P(1) prolactin+

Unknown

P(2) hyperparathyroidism

P(3) insulin+, glucagon+

325

Nonsense mutation
969C > A

P(1) prolactin+

Unknown

P(2) hyperparathyroidism

P(3) insulin+

350

Missense mutation
1159A > T

P(1) non-function

P(2) adenoma

P(3) non-function

350

Missense mutation
1159A > T

P(1) (-)

P(2) adenoma

P(3) non-function

215

Missense mutation
V215M, GTG- > ATG

P(1) (-)

P(2) hyperplasia

P(3) non-function

551

Frameshift mutation
P551R(del C)

P(1) (-)

P(3) (-)

251

Frameshift mutation
c.251_del; Ser84LeufsX35

P(1) prolactin+

P(2) adenoma

P(3) insulin+

196

Frameshift mutation
196-200insAGCCC

P(1) non-function

P(2) adenoma

P(3) calcitonin+

532

Frameshift mutation
c.1590_1606_del; p.Gly532AlafsX20

P(1) (-)

Yes

Our case

P(2) adenoma, hyperplasia

P(3) non-function