Endocrinology and Metabolism

Gu Hwan Kim (Kim GH)

2 Articles

A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene.: Min Jung Kim, Eun Hee Kim, Mi Seon Shin, Joo Hui Kim, Hee Kyung Na, Seong Joon Park, Sang Ah Lee, Eun Hee Koh, Woo Je Lee, Ki Ho Song, Joong Yeol Park, Ki Up Lee, Gu Hwan Kim, Han Wook Yoo, Min Seon Kim; Endocrinol Metab. 2011;26(2):171-176. Published online June 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.2.171

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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of multiple tumors in the parathyroid gland, pancreatic islet, and pituitary gland. This condition is caused by mutations of MEN1, a tumor suppressor gene. Thus far, 565 different germline and somatic mutations of the MEN1 gene have been reported. Herein, we describe the case of a 23-year-old woman who suffered from a repetitive loss of consciousness. After workup, the patient was diagnosed with MEN1 with insulinoma, hyperparathyrodism due to parathyroid adenoma, and non-functioning pituitary microadenoma. She underwent a partial parathyroidectomy and distal pancreatectomy. Familial screening of MEN1 revealed that her brother had prolactinoma, hyperparathyroidism, pancreatic gastrinoma and non-functioning adrenal adenoma. Her father had hyperparathyroidism, pancreatic tumor, and adrenal adenoma. Upon genetic analysis of the MEN1 gene, a novel mutation in the MEN1 gene (exon 1, c.251del; p.Ser84LuefsX35) was detected in the patient, as well as her father and brother.

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Parathyroid disorder and concomitant thyroid cancer in patients with multiple endocrine neoplasia type 1
Ying Wang, Sheng Cai, He Liu, Rui-Na Zhao, Xing-Jian Lai, Ke Lv, Yu-Xin Jiang, Jian-Chu Li
Medicine.2021; 100(36): e27098. CrossRef
Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1
Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee
Endocrinology and Metabolism.2014; 29(3): 270. CrossRef

A Case of Type Ia Glycogen Storage Disease Diagnosed in the Military Hospital.: Tae Woong Lee, Sang Youl Rhee, Joo Young Kim, Gu Hwan Kim, Han Wook Yoo, Jeong Taek Woo, Byung Ho Kim; Endocrinol Metab. 2011;26(1):84-88. Published online March 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.1.84

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Abstract PDF: We report here on a case of genetically confirmed type Ia glycogen storage disease (GSD) that was diagnosed in the military hospital. A twenty-year old soldier was admitted to the hospital with abdominal fullness. He had a past medical history of hepatomegaly that was firstly recognized at six months after birth, and he had been followed-up at an outpatient clinic with the presumptive diagnosis of type III GSD. He also had a history of growth hormone therapy because of growth retardation. However, he arbitrarily refused medical observation from 14 years of age. On the physical examination, the height of the patient was 163.1 cm and significant hepatomegaly was observed. Significantly abnormal liver-associated paramters were observed on the laboratory findings and multiple hepatic adenomas were observed on the CT exam and MRI scan. To determine the proper treatment, we tried to confirm the exact type of GSD in the patient. By mutational analysis, we found the c.648G>T homozygote splicing mutation in the G6PC gene and the patient was confirmed as having the type Ia GSD.

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