- KAL Gene and GnRH Receptor Gene Analysis in Patients with Kallmann's Syndrome.
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Ki Hyun Park, Hyoung Jin Mo, Jin Young Kim, Jeong Yeon Kim, Sang Wook Bae, Byung Seok Lee, In Kyu Kim, Sei Kwang Kim, Kyung Ah Kim, Yong Ho Ahn
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J Korean Endocr Soc. 1999;14(4):645-656. Published online January 1, 2001
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- BACKGROUND
Kallmann's syndrome is related to the defect in migration of olfactory neuron and GnRH neuron from the olfactory placode to the brain and it represents hypogonadism with anosmia or hyposmia. There are 3 modes of transmission in Kallmann's syndrome: X-linked, autosomal recessive and autosomal dominant. X-linked form is the most common. KAL gene is responsible for the X-linked form of Kallmann's syndrome and it had been localized to Xp22.3. The intron-exon organization had been determined and KAL gene mutation had also been identified in familial Kallmann's syndrome and it is very rare and shows heterogeneity. Furthermore, in the sporadic cases, KAL gene mutation is more rare. METHODS: In order to investigate the KAL gene mutation and the regulation of the gene expression in Kallmann's syndrome, we examined genomic DNA of 35 patients with sporadic Kallmann's syndrome. In the exon 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 of KAL gene and 1, 2, 3 of GnRH receptor gene, the mutations were analyzed by PCR-based DNA sequencing. RESULTS: In our study, the mutation of KAL gene and GnRH receptor gene was not identified in the studied exons that were known as preferable sites of the mutation. CONCLUSION: The mutation of KAL gene and GnRH receptor gene is rare, and it might be needed to investigate mutations in other genes or in other part of the KAL gene such as intron or promoter region.
- A Case of Diabetes Mellitus Caused by Calcitonin and Somatostatin Secreting Pancreatic Islet Tumor.
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Jae Hoon Chung, Kwang Won Kim, Byoung Joon Kim, Sung Hoon Kim, Kyung Ah Kim, Myung Sik Lee, Moon Gyu Lee, Yong Ki Min, Jong Ryol Ham, Dong Joon Kim, Hoe Jung Lee, Young Ryoon Oh
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J Korean Endocr Soc. 1999;14(2):425-431. Published online January 1, 2001
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- A case of 39-year-old diabetic patient with a calcitonin and somatostatin secreting pancreatic islet tumor is presented. He had suffered from chronic diarrhea and dyspepsia for 10 years and was diagnosed with diabetes 2 years ago. Abdominal CT revealed a huge abdominal mass which was considered as a neuroendocrine tumor after US-guided needle biopsy. A distal pancreatectomy and splenectomy were performed. Histologically, tumor cells, amanged in solid sheets, showed small nuclei without significant atypia and granular eosinophilic cytoplasm. Tumor cells showed strong immunoreacitivity for calcitonin and somatostatin. The serum clacitonin was markedly elevated (268.7 pmol/L, normal range; 0.9-7.6 pmol/L). After resection of the tumor, diarrhea and dyspepsia diappeared, and oral glucose tolerance test showed normal glucose tolerance with normalization of calcitonin.
- A Frequency of Hypothyroidism in a Population of Hypercholesterolemin Subjects.
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Jae Hoon Chung, Kwang Won Kim, Byoung Joon Kim, Sung Hoon Kim, Kyung Ah Kim, Myung Sik Lee, Moon Gyu Lee, Yong Ki Min, Yun Ho Choi, Myung Hee Shin
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J Korean Endocr Soc. 1998;13(3):351-358. Published online January 1, 2001
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- BACKGROUND
Hypothyroidism is a treatable cause of secondary hyperlipidemia. The lipid profile usually seen is an increased total and low density lipoprotein(LDL) cholesterol, and the plasma triglyceride may also be increased. Hypercholesterolemia associated with hypothyroidism is an important factor in the pathogenesis of coronary artery disease(CAD). And the hyperchole-sterolemia caused by hypothyroidism is potentially reversible by thyroid hormone replacement therapy. Hypothyroidism should be ruled out by routine laboratory screening as a treatable cause of secondary hyperlipidemia and increased CAD risk. We carried out this study aimed at evaluating the frequency of hypothyroidism and its relationship with serum cholesterol concentration in Koreans. METHODS: We investigated 15028(men 8273, women 6755) Korean subjects who visited our hospital center for health promotion during an one year period(from January 1, 1996, to December 31, 1996). Among them, we analyzed 6756 hypercholesterolemic subjects whose serum cholesterol levels were greater than 200 mg/dL. They performed thyroid function tests(total T, T4, and TSH) and lipid profiles(total cholesterol, triglyceride and HDL-cholesterol) were measured by enzyme assay. We defined hypothyroidism by serum thyrotropin values greater than 5 U/mL. RESULTS: The observed prevalence of hypothyroidism was 2.4%(163/6756). Among those with high TSH levels, 17(10.4%) had overt hypothyroidism with a low T4 (below 6 g/dL) level. As we analyzed the frequency of hypothyroidism according to cholesterol range by 20 mg/dL, the frequency was significantly increased in the group whose serum cholesterol levels were greater than 300 mg/dL, especially in women over 50 years of age. Analysis of lipid parameters showed that hypertriglyceridemia was frequent and hyperHDLaemia was observed in hypothyroidic populations. CONCLUSION: Screening for hypothyroidism by measurement of thyrotropin values is of particular importance in patients with hypercholesterolemia. And the frequency of hypothyroidism was more significantly increased in whose serum cholesterol levels were greater than 300 mg/dL, especially in the group of women over 50 years of age.
- Comparison of Immunohistochemical and Clinical Characteristics in Pituitary Adenoma with Acromegaly.
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Jae Hoon Chung, Eun Mi Koh, Kwang Won Kim, Byoung Joon Kim, Sung Hoon Kim, Kyung Ah Kim, Myung Sik Lee, Moon Gyu Lee, Yong Ki Min, Yeon Rim Seo, Dong Kyu Na, Jong Hyun Kim, Kyu Jeong Ahn, Jin Seok Kim
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J Korean Endocr Soc. 1998;13(3):324-330. Published online January 1, 2001
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- BACKGROUND
It assumed that plurihormonal pituitary adenomas in acromegaly, which were immunohistochemically stained with other pituitary hormones in addition to GH and prolactin, would be originated from poorly differentiated cells. Therefore, we speculated that they might have higher growth rates and worse prognosis than monohormonal adenomas. To verify this speculation, we analyzed the frequency of plurihormonal adenomas and compared the clinical parameters and radiological invasiveness between plurihormonal adenoma and GH-prolactin adenoma in acromegaly. METHODS: We studied 38 patients with acromegaly (22 males and 16 females, mean age 40.7 years) who were underwent surgical removal of pituitary adenomas by TSA from January 1995 to February 1998. We performed immunohistochemical staining in these tumors using avidinbiotin peroxidase complex method. An adenoma was considered as immunoreactive when above 50 percents of tumor cells were stained with anti-hormonal antibodies. Invasiveness of tumors were evaluated by preoperative MRI findings on the basis of Hardys classification. RESULTS: The frequencies of plurihormonal and GH-prolactin adenomas were 42% and 58%, respectively. Plurihormonal adenoma included an adenoma which was not stained with prolactin, but with GH and other hormones. Prolactin immunoreactivity was found in 97%(37/38) of the tumors. Immunoreactivities to FSH, ACTH, LH, and TSH were found in 37.8%, 13.1%, 2.6% and 2.7%, respectively. There were no significant differences in age, basal serum GH and IGF-1 concentrations between plurihormonal and GH-prolactin adenomas. There were also no significant differences in response to TRH & LH stimulation tests and somatostatin & bromocriptine suppression tests between two groups. There were no differences in radiological invasiveness between two groups (plurihormonal adenoma, grade I 2, grade II 3, grade III 7, grade IV 4; GH-prolactin adenoma, grade I 3, grade II 6, grade III 9, grade IV 4). CONCLUSION: Plurihormonal adenomas were 44% and immunoreactivity to prolactin was 97% in pituitary adenomas in acromegaly. There were no significant differences in clinical parameters and radiological invasiveness between plurihormonal and GH-prolactin adenomas in acromegaly.
- Small Medullary Thyroid Cancer Dectected by Genetic Mutation Screening in Men IIa Family.
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Jae Hoon Chung, Kwang Won Kim, Ji Eun Kim, Byoung Joon Kim, Sung Hoon Kim, Kyung Ah Kim, Myung Sik Lee, Moon Gyu Lee
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J Korean Endocr Soc. 1998;13(2):230-239. Published online January 1, 2001
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- Multiple endocrine neoplasia (MEN) Ila is an inherited disease characterized by the development of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. It has been shown to be associated with germ-line mutatians in the RET proto-oncogene. Presymptomatic screening of medullary thyroid carcinoma in MEN IIa families enables the early diagnosis of this tumor with its significant morbidity, We describe a 19-year-old woman fmm a MEN IIa family who was founded by DNA analysis to be a gene carrier of MEN IIa and then was diagnosed, using a pentagastrin stimulation test, as having presymptomatie medullary thyroid carcinoma She underwent thyroidectomy and histologic examination confirmed medullary thyroid carcinoma. It is cancluded that direct genetic analysis for mutations in the RET proto-oncogene should be the diagnstlc test of choice for identifying family members at risk for MEN IIa and thyroidectomy on the basis of genetic analysis is a rational course of action.
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