- A Case of Syndrome of Resistance to Thyroid Hormone Associated with Mutation(M313T) in Thyroid Hormone Receptor Beta Gene.
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Jae Kyung Hwang, Kyung Won Kim, Tae Yong Kim, Sang Wan Kim, Young Joo Park, Do Joon Park, Seong Yeon Kim, Hong Kyu Lee, Bo Youn Cho
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J Korean Endocr Soc. 2003;18(2):206-213. Published online April 1, 2003
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- Syndrome of resistance to thyroid hormone(RTH) is inherited by an autosomal dominant trait, and characterized by elevated thyroid hormone levels with reduced responsiveness of the pituitary and peripheral tissues to thyroid hormone action. All of the reported RTH patients have various mutations in the ligand-binding domain coding region of the thyroid hormone receptor beta gene. A 21-year-old man visited our hospital complaining of fatigue. He had mild thyroid goiter and intermittent palpitation. Thyroid function test showed elevated total T3, free T4, and TSH levels. Levels of TSH free a-subunit and basal pituitary hormones, except prolactin, were normal. MRI of the sellar region showed no abnormal finding. TSH response to TRH stimulation was normal, and TSH values to TRH stimulation after T3 suppression revealed partial response. Sequeuce analysis of the thyroid hormone receptor beta gene confirmed a heterozygous missense mutation in exon 9; and the amino acid alteration was a substitution of a threonine(ACG) for a methionine(ATG) at codon313. Sequeuce analysis of the parents showed no mutation.We report the first case of a man with RTH caused by a de novo mutation(M313T) in TRbeta gene, confirmed by sequeuce analysis.
- A Case of Multiple Endocrine Neoplasia Type 2B associated with a M918T Mutation in RET Proto-Oncogene.
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Tae Yong Kim, Jae Kyung Hwang, Min Kyong Moon, Young Joo Park, Do Joon Park, Seong Yeon Kim, Hong Kyu Lee, Yo Kyu Yoon, Bo Youn Cho
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J Korean Endocr Soc. 2003;18(1):85-93. Published online February 1, 2003
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- A multiple endocrine neoplasia type 2B(MEN2B) is the most distinct and aggressive form of the MEN type 2 variants. We report a case of a 24-years-old woman with MEN2B. The patient had previously undergone a Duhamel's operation due to a megacolon at 6 years old, minor surgery to remove small tumors on the lip at 8 years old, and a bilateral osteotomy of the femur, due to coxa valga, at 15 years old. She underwent a total thyroidectomy and neck dissection, due to a growing thyroid nodule, despite thyroxine treatment, at 19 years old. The pathology revealed a medullary thyroid carcinoma. There was no history of MEN 2B in her family. She had prominent lips, multiple oral mucosal masses, and marfanoid habitus. During the subsequent follow-up, a positron emission tomogram was taken due to a persistently high level of serum calcitonin, despite repeated neck dissections, which revealed a mass in the right adrenal gland. Adrenomedullary function tests showed high levels of urinary catecholamine metabolites, and a genetic analysis of the peripheral leukocyte showed a codon 918 mutation (Met918Thr) at exon 16 of the RET proto-oncogene. The patient underwent a right adrenalectomy and the pathology revealed a pheoch-romocytoma.
- Vitamin D Receptor Gene 3' End Polymorphisms in Patients with Graves' Disease in Koreans.
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Jae Kyung Hwang, Kyung Won Kim, Tae Yong Kim, Hui Su Lee, Young Joo Park, Chan Soo Shin, Do Joon Park, Kyong Soo Park, Byung Doo Rhee, Seong Yeon Kim, Hong Kyu Lee, Bo Youn Cho
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J Korean Endocr Soc. 2003;18(1):12-23. Published online February 1, 2003
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The aim of this study was to evaluate the association of vitamin D receptor (VDR) gene polymorphisms with Graves' disease in Koreans. We also investigated the association of VDR gene polymorphisms with the clinical characteristics and titers of TSH receptor antibodies in patients with Graves' disease. SUBJECTS AND METHODS: The VDR gene polymorphisms were evaluated in 117 patients with Graves' disease and 156 normal controls. The polymorphisms were represented according to restriction fragment length polymorphism; Aa(ApaI), Bb(BsmI) and Tt(TaqI), with the capital letters signifying the absence, and small letters the presence of restriction sites. RESULTS: The distribution of the ApaI polymorphism genotype was: AA(17.1%), Aa(50.4%) and aa(32.5%). The BsmI polymorphism genotype distribution was: BB(7.1%), Bb(35.4%) and bb(57.5%); and the TaqI polymorphism genotype distribution was: TT(92.6%), Tt(6.2) and tt(1.2%). No significant differences in either genotypic or allelic distributions were observed, between the patients with Graves' disease and the normal controls, associated with the VDR gene polymorphisms. No significant differences were observed with age, sex, size of goiter or the presence of ophthalmopathy, in patients with Graves' disease associated with the VDR gene polymorphisms. However, the titers of the TBII were significantly higher in the aa than the Aa genotype, and were also higher in the group without the A allele than in groups with(aa 55.9+/-18.3 vs. Aa 43.2+/-23.4, p<0.05; aa 55.9+/-18.3 vs. AA and Aa 42.9+/-23.5, p<0.05). Thyroid stimulating antibodies measured with a CHO cell transfected with a wild type of human TSH receptor, were also higher in patients without the A allele than in those with(aa 620+/-829 vs. AA and Aa 353+/-306, p<0.05). The titers of the anti-thyroglobulin antibodies were significantly higher in the groups not containing the B allele than in the group that did(bb 50.9+/-42.8 vs. BB and Bb 31.9+/-38.9, p<0.05). The serum alkaline phosphatase activities were higher in the group having the b allele than in the group that did not(Bb and bb 139+/-68 vs. BB 82.2+/-15.5, p<0.05). CONCLUSIONS: The VDR gene 3' end polymorphism was not associated with susceptibility to Graves' disease in Koreans. The studies of other polymorphism sites of the VDR gene might be required to elucidate the association of VDR gene polymorphisms with Graves' disease in Koreans.
- A Case of Acute Suppurative Thyroiditis as a Complication of Acupuncture in Patient with a Benign Thyroid Nodule.
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Tae Yong Kim, Han Mo Yang, Jae Kyung Hwang, Young Min Cho, Young Joo Park, Do Joon Park, Seong Yeon Kim, Hong Kyu Lee, Bo Youn Cho
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J Korean Endocr Soc. 2002;17(4):576-582. Published online August 1, 2002
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- Acute suppurative thyroiditis is an uncommon disease, and usually affects patients with preexisting thyroid gland pathology. Penetrating injury could provide an acquired channel for the infection to spread into the relatively infection-resistant thyroid gland. We describe the first case of acute suppurative thyroiditis, as a complication of acupuncture, in a patient with a benign thyroid nodule. A 54-year-old male received acupuncture on his neck for the treatment of a previously diagnosed thyroid nodule. Four days after the acupuncture, the patient was admitted due to severe pain of the anterior neck and odynophagia. Fever and tenderness over the thyroid gland were observed. Burkholderia cepacia was isolated from a culture dish of aspirate of the thyroid gland. A neck computed tomography scan showed an abscess in the thyroid gland. Antibiotic treatment, and repeated drainage of the abscess, ameliorated the symptoms of infection. Two weeks after admission, the patient was discharged without sequela. Acupuncture should be considered as a kind of penetrating injury, which may induce acute suppurative thyroiditis.
- A Case of Adrenalectomy after Preterm Delivery in Cushing's Syndrome of Third Trimester Pregnant Woman.
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Kwang Sik Song, Jae Kyung Hwang, Ki Tak Ju, Hang Jin Lee, Suk Ho Song, Ki Young Lee, Chan Jong Suh, Hong Kyu Kim, Hyu Young Park, Dal Mo Yang, Young Ha Oh, Moon Ho Kang
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J Korean Endocr Soc. 2001;16(1):134-139. Published online February 1, 2001
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- A renin- or angiotensin-II responsive aldosterone producing tumor is a rare cause of primary hyperaldosteronism. This tumor can be identified by tests that show that the aldosterone producing adrenal tumor is not fully autonomous. In other words partially it is responsible for the stimulation of aldosterone secretion that results aldosterone levels in an increase in serum in response to the upright posture and spironolactone treatment. Furthermore, the urinary 18-hydroxycortisol level is within the normal range. Because of different responses to surgical removal, the differential diagnosis of the causes of primary aldosteronism can't be overemphasized even for rare causes of primary aldosteronism such as unilateral nodular hyperplasia or a renin-responsible aldosterone producing tumor. We should consider renin or angiotensin-II responsive adrenal adenoma in the differential diagnosis of primary aldosteronism when biochemical data shows atypical results. Here we present the first case in Korea of a renin-responsive aldosterone producing adrenal adenoma which was fully accessible and was successfully treated by surgical removal. Also, sampling for aldosterone secretion just above the insertion site in the left renal vein before surgery showed a suspiciously abberant left adrenal vein drainage into the IVC, This was very helpful information during adrenal vein ligation in laparoscopic adrenalectomy.
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