Skip Navigation
Skip to contents

Endocrinol Metab : Endocrinology and Metabolism

clarivate
OPEN ACCESS
SEARCH
Search

Previous issues

Page Path
HOME > BROWSE ARTICLES > Previous issues
14 Previous issues
Filter
Filter
Article type
Keywords
Authors
Volume 26(2); June 2011
Prev issue Next issue
Review Article
Current Understanding and Treatment of Primary Hyperparathyroidism.
John I Lew
Endocrinol Metab. 2011;26(2):109-117.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.109
  • 1,658 View
  • 26 Download
  • 4 Crossref
AbstractAbstract PDF
No abstract available.

Citations

Citations to this article as recorded by  
  • Preoperative Thoracic Muscle Mass Predicts Bone Density Change After Parathyroidectomy in Primary Hyperparathyroidism
    Seung Won Burm, Namki Hong, Seunghyun Lee, Gi Jeong Kim, Sang Hyun Hwang, Jongju Jeong, Yumie Rhee
    The Journal of Clinical Endocrinology & Metabolism.2022; 107(6): e2474.     CrossRef
  • The natural history and hip geometric changes of primary hyperparathyroidism without parathyroid surgery
    Kyong Yeun Jung, A. Ram Hong, Dong Hwa Lee, Jung Hee Kim, Kyoung Min Kim, Chan Soo Shin, Seong Yeon Kim, Sang Wan Kim
    Journal of Bone and Mineral Metabolism.2017; 35(3): 278.     CrossRef
  • A Case of Calcium Pyrophosphate Dihydrate Deposition Disease Associated with Primary Hyperparathyroidism
    Chang-Nam Son, Ji-Young Lee, Dam Kim, Kyung-Bin Joo, Seunghun Lee, Young-Soo Song, Dong-Sun Kim, Kyung Tae, Tae-Seok Yoo, Jae-Bum Jun
    Journal of Rheumatic Diseases.2014; 21(2): 82.     CrossRef
  • Preoperative Localization and Intraoperative Parathyroid Hormone Assay in Korean Patients with Primary Hyperparathyroidism
    Eirie Cho, Jung Mi Chang, Seok Young Yoon, Gil Tae Lee, Yun Hyi Ku, Hong Il Kim, Myung-Chul Lee, Guk Haeng Lee, Min Joo Kim
    Endocrinology and Metabolism.2014; 29(4): 464.     CrossRef
Close layer
Editorial
No Significance of the Free Cortisol Index Compared to Total Cortisol in Critically Ill Patients.
Doo Man Kim
Endocrinol Metab. 2011;26(2):118-119.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.118
  • 1,519 View
  • 18 Download
AbstractAbstract PDF
No abstract available.
Close layer
Original Articles
No Significance of the Free Cortisol Index Compared to Total Cortisol in Critically Ill Patients.
Kyung Won Kim, Sang Wan Kim, Hee Joung Kim, Chan Soo Shin, Sung Jae Park, Gil Joon Suh, Seong Yeon Kim
Endocrinol Metab. 2011;26(2):120-125.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.120
  • 1,880 View
  • 21 Download
  • 1 Crossref
AbstractAbstract PDF
BACKGROUND
Some patients exhibit an inadequate response of cortisol to stressful conditions; this state is known as critical illness-related corticosteroid insufficiency. These patients have low serum binding protein concentrations, thereby suggesting that total serum cortisol may not be reflective of circulating cortisol activity. As the free cortisol index (FCI = total cortisol/corticosteroid-binding globulin) has been correlated with serum free cortisol, we measured FCI in Korean patients for the first time. In this study, we attempted to determine whether FCI was superior to total cortisol in predicting 30-day mortality. METHODS: We recruited 65 critically ill patients with relatively high Acute Physiology, Age and Chronic Health Evaluation (APACHE III) scores. Fourteen patients with pituitary disease but normal pituitary function were recruited from outpatient clinics. Total cortisol and corticosteroid-binding globulin were measured in patients and controls during the short Synacthen test. RESULTS: The basal cortisol level and basal FCI level were higher in patients (n = 65) than in healthy controls (P < 0.001, respectively). We found that total cortisol was strongly correlated with FCI (P < 0.001) in critically ill patients; however, neither total cortisol nor FCI were associated with 30-day mortality among patients. Only severe clinical criteria (such as APACHE-III scores and low albumin) were associated with 30-day mortality. CONCLUSION: Our results do not suggest that FCI is more accurate than total cortisol in predicting clinical outcomes in critically ill patients.

Citations

Citations to this article as recorded by  
  • No Significance of the Free Cortisol Index Compared to Total Cortisol in Critically Ill Patients
    Doo-Man Kim
    Endocrinology and Metabolism.2011; 26(2): 118.     CrossRef
Close layer
The Association between Type 2 Diabetes Mellitus and Colorectal Cancer.
Byeong Do Yi, Young Pil Bae, Bong Gun Kim, Jong Wha Park, Dong Hyun Kim, Ja Young Park, Seong Ho Choi, Hee Seung Park, Jae Seung Lee, Chang Won Lee, Sang Soo Kim, Bo Hyun Kim, Moon Ki Choi, In Joo Kim
Endocrinol Metab. 2011;26(2):126-132.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.126
  • 2,604 View
  • 21 Download
  • 4 Crossref
AbstractAbstract PDF
BACKGROUND
There is a close connection between type 2 diabetes mellitus and the risk of cancers and related mortality. The principal objective of the present study was to explore the association between type 2 diabetes and colorectal cancer. METHODS: We retrospectively compared 1111 subjects (age > or = 30 years) who were subjected to colonoscopies between June 2006 and June 2009. We evaluated the anthropometric data, presenting symptoms and signs, history of diabetes, laboratory data, colonoscopy findings and biopsy results. We analyzed the correlation between colorectal cancer and influencing factors, and compared the incidence rates of colorectal cancer in the type 2 diabetes and control groups. RESULTS: Four hundreds and seven of the subjects had diabetes mellitus. The incidence of colorectal cancer was increased significantly in type 2 diabetes relative to the control group (7.4% vs. 3.4%, P < 0.05). Colorectal cancer was correlated significantly with age, type 2 diabetes, constipation, anemia, and gastrointestinal symptoms. Following logistic regression analysis, age and constipation were associated significantly with colorectal cancer. In the age below 65 years subgroup, the incidence of colorectal cancer was increased significantly in the type 2 diabetes group relative to the control group. CONCLUSION: Type 2 diabetes was associated with increased colorectal cancer risk. This association was more definite in the subjects younger than 65 years.

Citations

Citations to this article as recorded by  
  • Clinical Characteristics and Prevalence of Comorbidities according to Metformin Use in Korean Patients with Type 2 Diabetes
    Sang Ouk Chin, In Gyoon Ha, Sang Youl Rhee, Su Jin Jeong, Suk Chon, Sung Hoon Kim, Kyu Jeung Ahn, Sei Hyun Baik, Yongsoo Park, Moon Suk Nam, Kwan Woo Lee, Jeong Taek Woo
    International Journal of Endocrinology.2020; 2020: 1.     CrossRef
  • Management of long-term thyroid cancer survivors in Korea
    Ji Eun Lee, Aejin Goo, Kyu Eun Lee, Do Joon Park, Belong Cho
    Journal of the Korean Medical Association.2016; 59(4): 287.     CrossRef
  • Analysis of the Prevalence of Diabetes Mellitus and Related Factors for the Local Seniors
    Min-Jee Sung, Eun-Jung Kim, Hyun-Joo Lee, Jin-Won Noh
    The Journal of the Korea Contents Association.2014; 14(5): 244.     CrossRef
  • Does Diabetes Mellitus Influence Standardized Uptake Values of Fluorodeoxyglucose Positron Emission Tomography in Colorectal Cancer?
    Da Yeon Oh, Ji Won Kim, Seong-Joon Koh, Mingoo Kim, Ji Hoon Park, Su Yeon Cho, Byeong Gwan Kim, Kook Lae Lee, Jong Pil Im
    Intestinal Research.2014; 12(2): 146.     CrossRef
Close layer
Prevalence and Characteristics of Metabolically Obese but Normal Weight and Metabolically Healthy but Obese in Middle-aged Koreans: the Chungju Metabolic Disease Cohort (CMC) Study.
Seung Hwan Lee, Hee Sung Ha, Young Jun Park, Jin Hee Lee, Hyeon Woo Yim, Kun Ho Yoon, Moo Il Kang, Won Chul Lee, Ho Young Son, Yong Moon Park, Hyuk Sang Kwon
Endocrinol Metab. 2011;26(2):133-141.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.133
  • 2,369 View
  • 35 Download
  • 2 Crossref
AbstractAbstract PDF
BACKGROUND
We attempted to determine the prevalence and characteristics of metabolically obese but normal weight (MONW) and metabolically healthy but obese (MHO) individuals in a large cohort of middle-aged Koreans. METHODS: 8,987 non-diabetic subjects were selected from the Chungju Metabolic disease Cohort Study performed in 2003-2006. MONW was defined as a body mass index (BMI) > or = 18.5 and < 23 kg/m2 with a homeostasis model assessment of insulin resistance (HOMA-IR) in the highest quartile. MHO was defined as BMI > or = 25 kg/m2 with HOMA-IR in the lowest quartile. RESULTS: The mean age of the subjects was 62.3 +/- 10.5 years (men 40.4%). The age-adjusted prevalence of MONW and MHO were 4.3% (5.3% men, 3.7% women) and 5.6% (3.6% men, 7.0% women), respectively. 14.2% of men and 12.9% of women were classified as MONW among the normal weight population, whereas 10.7% of men and 14.5% of women were classified as MHO among the obese subjects. The prevalence of prediabetes was significantly higher in the MONW group than in the MHO group (34.7 vs. 12.5%, P < 0.0001 in men; 23.1 vs. 8.8%, P < 0.0001 in women). The MONW group evidenced an equivalent risk of coronary heart disease (CHD) relative to the MHO group (10.77 +/- 0.68 vs. 10.22 +/- 0.90% in men; 7.02 +/- 0.34 vs. 7.26 +/- 0.26% in women, means +/- standard error [SE]). CONCLUSION: The subjects in the MONW group are characterized by a high risk of diabetes and CHD, despite their normal weights. Their substantial prevalence in the population emphasizes the importance of identifying subjects in the MONW group, and warrants more intensive risk management.

Citations

Citations to this article as recorded by  
  • Obesity, metabolic health, and mortality in adults: a nationwide population-based study in Korea
    Hae Kyung Yang, Kyungdo Han, Hyuk-Sang Kwon, Yong-Moon Park, Jae-Hyoung Cho, Kun-Ho Yoon, Moo-Il Kang, Bong-Yun Cha, Seung-Hwan Lee
    Scientific Reports.2016;[Epub]     CrossRef
  • The Definition of Metabolically Healthy Obesity
    Hae Kyung Yang, Seung-Hwan Lee
    The Journal of Korean Diabetes.2014; 15(1): 17.     CrossRef
Close layer
GLP-1 Can Protect Proinflammatory Cytokines Induced Beta Cell Apoptosis through the Ubiquitination.
Dong Mee Lim, Ju Young Kim, Kang Woo Lee, Keun Young Park, Byung Joon Kim
Endocrinol Metab. 2011;26(2):142-149.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.142
  • 1,617 View
  • 19 Download
AbstractAbstract PDF
BACKGROUND
Proinflammatory cytokines are one of the causes of diabetes mellitus. However, the exact molecular mechanism by which proinflammatory cytokines induce beta-cell death remains to be clearly elucidated. Glucagon-like peptide-1 (GLP-1) affects the stimulation of insulin secretion and the preservation of beta-cells. Additionally, it may exert an antiapoptotic effect on beta cells; however, the mechanism underlying this effect has yet to be demonstrated. Therefore, we investigated the protective effects of GLP-1 in endoplasmic reticulum (ER)-mediated beta-cell apoptosis using proinflammatory cytokines. METHODS: To induce ER stress, hamster insulin-secreting tumor (HIT)-T15 cells were treated using a mixture of cytokines. Apoptosis was evaluated via MTT assay, Hoechst 33342 staining, and annexin/propidium iodide (PI) flow cytometry. The mRNA and protein expression levels of ER stress-related molecules were determined via PCR and Western blotting, respectively. Nitric oxide was measured with Griess reagent. The levels of inducible nitric oxide synthase (iNOS) mRNA and protein were analyzed via real-time PCR and Western blot, respectively. iNOS protein degradation was evaluated via immunoprecipitation. We pretreated HIT-T15 cells with exendin (Ex)-4 for 1 hour prior to the induction of stress. RESULTS: We determined that Ex-4 exerted a protective effect through nitric oxide and the modulation of ER stress-related molecules (glucose-regulated protein [GRP]78, GRP94, and CCAAT/enhancer-binding protein homologous protein [CHOP]) and that Ex-4 stimulates iNOS protein degradation via the ubiquitination pathway. Additionally, Ex-4 also induced the recovery of insulin2 mRNA expression in beta cells. CONCLUSION: The results of this study indicate that GLP-1 may protect beta cells against apoptosis through the ubiquitination pathway.
Close layer
Case Reports
Pregnancy-induced Osteoporosis Combined with Multiple Compression Fractures: A Case Report.
Ji Eun Lee, Jin Sun Jang, Sun Hee Ko, Min Hee Kim, Dong Jun Lim, Moo Il Kang, Bong Yun Cha, Sook Hee Hong, Ja seong Bae, Kyeoung Sik Ryu
Endocrinol Metab. 2011;26(2):150-154.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.150
  • 2,071 View
  • 28 Download
  • 1 Crossref
AbstractAbstract PDF
Pregnancy associated osteoporosis (PAO) is a rare condition. It may affect women during pregnancy or after the delivery and it can induce severe back pain. Physicians can find multiple compression fractures on the plain images of these patients. However, little is known about PAO, including the prevalence, the cause, the risk factors and the prognosis. Herein we report on a case of PAO in a 38-year-old female who suffered from severe back pain induced by multiple vertebral compression fractures. After excluding the possibility of unknown malignancy, the patient underwent vertebroplasty to improve the clinical symptom. The bone biopsy results confirmed multiple benign acute compression fractures. The patient was treated with oral bisphosphonate, calcium and vitamin D. She showed clinical improvement without developing any additional vertebral fracture. When young women during pregnancy or just after the delivery complain of persistent back pain, PAO should be considered in the differential diagnosis, and early recognition and treatment are needed for PAO.

Citations

Citations to this article as recorded by  
  • Effect of teriparatide on pregnancy and lactation-associated osteoporosis with multiple vertebral fractures
    Eun Yeong Choe, Je Eun Song, Kyeong Hye Park, Hannah Seok, Eun Jig Lee, Sung-Kil Lim, Yumie Rhee
    Journal of Bone and Mineral Metabolism.2012; 30(5): 596.     CrossRef
Close layer
A Case of Pheochromocytoma Presenting as Syncope Due to Orthostatic Hypotension.
Ji Yeun Kim, Sung Woo Kim, Seung Jun Lee, Hyun Sook Kim, Eui Dal Jung, Yun Seop Kum
Endocrinol Metab. 2011;26(2):155-159.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.155
  • 1,737 View
  • 24 Download
AbstractAbstract PDF
Patients with pheochromocytoma manifest with headache, perspiration, and palpitation. Although most patients have either sustained or paroxysmal hypertension, some patients present with hypotension. However, severe orthostatic hypotension is relatively rare in patients with pheochromocytoma. We report here on a 72-year-old woman with pheochromocytoma and she presented with recurrent syncope due to hypotension and blood pressure fluctuation. Syncope due to hypotension is unusual in patients with pheochromocytoma and only a few such cases have been reported. The present case serves to illustrate an unexpected presentation of this tumor.
Close layer
A Case of Pituitary Adenoma with Simultaneous Secretion of TSH and GH.
Eun Young Lee, Cheol Ryong Ku, Hyun Min Kim, Woo Kyoung Lee, Jung Soo Lim, Sena Hwang, Do Hwan Kim, Dong Yeob Shin, Eun Jig Lee
Endocrinol Metab. 2011;26(2):160-165.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.160
  • 2,961 View
  • 30 Download
  • 2 Crossref
AbstractAbstract PDF
Thyrotropin (TSH)-secreting pituitary adenoma is a very rare disease. In one-quarter of patients suffering from this disease, the pituitary tumor secretes other anterior pituitary hormones. Herein, we report a case of pituitary adenoma with simultaneous secretion of TSH and growth hormone (GH). A 34-year-old female visitied local hospital complaining of sweating, intermittent palpitation, and weight loss of 8 kg within 1 year. The patient had undergone trans-sphenoidal surgery 3 years prior for resolution of a TSH and GH co-secreting pituitary adenoma. She had been administered somatostatin analogue prior to visiting our hospital. The patient's GH levels were suppressed to below 1 ng/mL on the 75 g oral glucose tolerance test, and her basal insulin-like growth factor-I (IGF-I) level was within normal range. Thyroid function tests demonstrated increased levels of both free thyroxine and TSH. Sella-MRI revealed pituitary adenoma at the floor of the pituitary fossa, approximately 2 cm in height. Therefore, she was diagnosed with residual TSH-secreting pituitary adenoma. The patient again underwent trans-sphenoidal surgery and entered complete remission, based on hormone levels and MRI findings.

Citations

Citations to this article as recorded by  
  • Endoscopic Transsphenoidal Surgery of Pituitary Adenomas: Preliminary Results of the Neurosurgery Service of Hospital Cristo Redentor
    Gerson Perondi, Afonso Mariante, Fernando Azambuja, Gabriel Frizon Greggianin, Wanderson William dos Santos Dias, Giulia Pinzetta
    Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery.2023; 42(02): e89.     CrossRef
  • A case of a co-secreting TSH and growth hormone pituitary adenoma presenting with a thyroid nodule
    Laura Hamilton Adams, Derick Adams
    Endocrinology, Diabetes & Metabolism Case Reports.2018;[Epub]     CrossRef
Close layer
A Case of Primary Hyperparathyroidism Caused by Solitary Parathyroid Adenoma That was Not Detected by Both Ultrasonography and Sestamibi Scan.
Kyong Yong Oh, Byoungho Choi, Yukyung Lee, Do Hwan Kim, Hyon Seung Yi, Kwang Jun Kim, Sihoon Lee, Sung Kil Lim
Endocrinol Metab. 2011;26(2):166-170.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.166
  • 1,803 View
  • 24 Download
  • 1 Crossref
AbstractAbstract PDF
Thanks to advances in assay techniques and routine measurements in serum chemical analysis, primary hyperparathyroidism has become far more frequently detected, and the number of asymptomatic patients has substantially increased. In the majority of patients (85%), a solitary adenoma is the underlying cause of primary hyperparathyroidism. Surgical excision is the treatment of choice for most cases of primary hyperparathyroidism; this procedure has a relatively high success rate. In the past decade, improvements in preoperative imaging have played a major role in a targeted operative approach, which allows for minimally invasive surgery to be performed. The success of parathyroid surgery depends on the accurate preoperative localization of parathyroid adenoma. In this study, we report the case of a 54 year-old woman with primary hyperparathyroidism who presented with left buttock and leg pain. For localization of the parathyroid lesion, an ultrasonography and a 99mTc-sestamibi scan were initially performed, but these attempts failed to localize the lesion. We then carried out contrast-enhanced CT; thereafter, a single parathyroid adenoma was detected. Therefore, in patients with negative results on both ultrasonography and 99mTc-sestamibi scan, contrast-enhanced CT may prove helpful for preoperative parathyroid localization.

Citations

Citations to this article as recorded by  
  • Primary Hyperparathyroidism with Ectopic Parathyroid Adenoma Detected by Both99mTc-MIBI SPECT and Contrast-Enhanced Neck CT
    Hye Jin Lim, Dong Geum Shin, Jun Bong Kim, Jin Taek Kim, Hyo Jeong Kim, Man Sil Park, Ho Jeong Lee
    Korean Journal of Medicine.2012; 83(5): 641.     CrossRef
Close layer
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
  • 1,952 View
  • 31 Download
  • 2 Crossref
AbstractAbstract PDF
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.

Citations

Citations to this article as recorded by  
  • 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
Close layer
Mutational Analysis of the NF1 Gene in Two Families with Neurofibromatosis 1 Accompanied by Pheochromocytoma.
Hyon Seung Yi, Sei Hyun Kim, Jihoon Kim, Eun Jin Bae, Suntaek Hong, Ie Byung Park, Yu Jin Kim, Sihoon Lee
Endocrinol Metab. 2011;26(2):177-184.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.177
  • 1,896 View
  • 25 Download
  • 2 Crossref
AbstractAbstract PDF
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant inherited disorders affecting the nervous system. NF1 is associated with mutations in the NF1 gene, which is located on chromosome sub-band 17q11.2 and contains 57 exons spanning approximately 300 kb of genomic DNA. NF1 is caused by a loss of function mutation of the NF1 gene, a tumor suppressor gene, which encodes for neurofibromin, a GTPase-activating protein (GAP) involved in the negative regulation of Ras activity. The GAP-related domain, which is encoded for by exons 20-27a, is one of the most important functional domains in neurofibromin. The cysteine-serine-rich domain has been recognized as an important functional domain in NF1-related pheochromocytomas. As the result of many genetic analyses of NF1-related pheochromocytomas, pheochromocytoma has generally been recognized as a true component of NF1. We recently experienced two families with NF1 accompanied by pheochromocytoma. The proband of family 1 is a 31-year-old female diagnosed with NF1 and pheochromocytoma. Gene analysis of the proband and her sister showed that the mutation of the NF1 gene (c.7907+1G>A) led to the skipping of exon 53 during NF1 mRNA splicing. The proband of family 2 is a 48-year-old male who was diagnosed with the same condition. Gene analysis demonstrated the mutation of the NF1 gene (c.5206-8C>G) with missplicing of exon 37. These novel germline mutations did not fall into the GAP-related nor the cysteine-serine-rich domains, but into the C-terminal area of the NF1 gene. This suggests that the correlation between the genotype and phenotype of NF1-related pheochromocytoma is somewhat difficult to characterize. Further studies will be necessary to confirm the function of the C-terminal area of the NF1 gene and its contribution to the development of NF1 and pheochromocytoma.

Citations

Citations to this article as recorded by  
  • Mutation Spectrum of NF1 and Clinical Characteristics in 78 Korean Patients With Neurofibromatosis Type 1
    Jung Min Ko, Young Bae Sohn, Seon Yong Jeong, Hyon-Ju Kim, Ludwine M. Messiaen
    Pediatric Neurology.2013; 48(6): 447.     CrossRef
  • Oncologic manifestations of neurofibromatosis type 1 in Korea
    Eui Tae Kim, Hwan Namgung, Hyun Deok Shin, Soon Il Lee, Jee Eun Kwon, Myung Chul Chang, Dong Guk Park
    Journal of the Korean Surgical Society.2012; 82(4): 205.     CrossRef
Close layer
Letter
Letter: Association of the Parathyroid Adenoma Volume and the Biochemical Parameters in Primary Hyperparathyroidism (Endocrinol Metab 26:62-66, 2011, Yul Hwang-Bo et al.).
Dong Jin Chung
Endocrinol Metab. 2011;26(2):185.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.185
  • 1,663 View
  • 22 Download
  • 2 Crossref
AbstractAbstract PDF
No abstract available.

Citations

Citations to this article as recorded by  
  • Hepatic Dysfunction Caused by Consumption of a High-Fat Diet
    Anthony R. Soltis, Norman J. Kennedy, Xiaofeng Xin, Feng Zhou, Scott B. Ficarro, Yoon Sing Yap, Bryan J. Matthews, Douglas A. Lauffenburger, Forest M. White, Jarrod A. Marto, Roger J. Davis, Ernest Fraenkel
    SSRN Electronic Journal .2018;[Epub]     CrossRef
  • Primary bilateral adrenal nodular disease with Cushing's syndrome: varying aetiology
    Kush Dev Singh Jarial, Rama Walia, Uma Nahar, Anil Bhansali
    BMJ Case Reports.2017; : bcr-2017-220154.     CrossRef
Close layer
Comment
Response: Association of the Parathyroid Adenoma Volume and the Biochemical Parameters in Primary Hyperparathyroidism (Endocrinol Metab 26:62-66, 2011, Yul Hwang-Bo et al.).
Yul Hwang-Bo, Chan Soo Shin
Endocrinol Metab. 2011;26(2):186.   Published online June 1, 2011
DOI: https://doi.org/10.3803/EnM.2011.26.2.186
  • 1,480 View
  • 20 Download
AbstractAbstract PDF
No abstract available.
Close layer

Endocrinol Metab : Endocrinology and Metabolism