ABSTRACT
No abstract available.
Subject(s)
Adult , Female , Humans , Biomarkers/analysis , Biopsy , Diagnosis, Differential , Goiter/complications , Immunoglobulin G/analysis , Pain/diagnosis , Predictive Value of Tests , Thyroid Gland/diagnostic imaging , Thyroidectomy , Thyroiditis/complications , Treatment Outcome , UltrasonographyABSTRACT
No abstract available.
Subject(s)
Adolescent , Female , Humans , ACTH-Secreting Pituitary Adenoma/complications , Adenoma/complications , Biomarkers/urine , Biopsy , Circadian Rhythm , Creatinine/urine , Cushing Syndrome/diagnosis , Hydrocortisone/urine , Magnetic Resonance Imaging , Predictive Value of Tests , Tomography, X-Ray Computed , Treatment Outcome , UrinalysisABSTRACT
No abstract available.
Subject(s)
Humans , Male , Young Adult , Alternative Splicing , Biopsy , Carney Complex/diagnosis , Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics , DNA Mutational Analysis , Genetic Predisposition to Disease , Magnetic Resonance Imaging , Mutation , Pedigree , Phenotype , Protein Isoforms , Tomography, X-Ray ComputedABSTRACT
Glucocorticoid-remediable aldosteronism (GRA) is an autosomal-dominant inheritable form of hyperaldosteronism with early onset hypertension. GRA is caused by unequal crossing-over of the steroid 11beta-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. As a result of chimeric gene duplication, aldosterone is ectopically synthesized in the adrenal zona fasciculata under the control of adrenocorticotropin. Here, we describe three cases of GRA in a Korean family. The proband-a 21-yr-old female-was incidentally found to have high blood pressure (170/108 mmHg). Her 46-yr-old father had been treated twice for cerebral hemorrhage at the ages of 29 and 39 yr. Her 15-yr-old brother had a 2-yr history of hypertension; however, he was never treated. Their laboratory test results showed normokalemia, hyporeninemia, hyperaldosteronism, and a high plasma aldosterone concentration-to-plasma renin activity ratio. Normal saline loading failed to suppress aldosterone secretion. However, dexamethasone administration effectively suppressed their plasma aldosterone concentrations. Following genetic analyses with PCR and direct sequencing to document the chimeric gene and crossover site, respectively, we identified CYP11B1/CYP11B2 and determined the breakpoint of unequal crossover to be located between intron 2 of CYP11B1 and exon 3 of CYP11B2.
Subject(s)
Adolescent , Female , Humans , Male , Middle Aged , Young Adult , Aldosterone/blood , Cytochrome P-450 CYP11B2/genetics , Asian People/genetics , Dexamethasone/therapeutic use , Family , Glucocorticoids/therapeutic use , Hyperaldosteronism/diagnosis , Hypertension/etiology , Magnetic Resonance Angiography , Renin/blood , Republic of Korea , Sequence Analysis, DNA , Steroid 11-beta-Hydroxylase/geneticsABSTRACT
Members of the inhibitors of differentiation (Id) family of helix-loop-helix (HLH) proteins are known to play important roles in the proliferation and differentiation of many cell types. Thyroid-stimulating hormone (TSH) regulates proliferation and differentiation by activating TSH receptor (TSHR) in thyrocytes. In this study, we found that Id2, one of the Id family proteins, is a major target for regulation by TSH in FRTL-5 thyroid cells. TSH rapidly increases the Id2 mRNA level in FRTL-5 thyroid cells but the Id2 protein showed biphasic regulatory patterns, being transiently reduced and subsequently induced by TSH treatment. Transient reduction of Id2 protein was noted within 2 hr of TSH treatment and was mediated by proteasomal degradation. Moreover, reduced Id2 expression correlated with the activity of the phosphatidylinositol 3 kinase pathway, which is activated by TSH. Although TSH increases the activity of the Id2 promoter, TSH-induced activation of this promoter was independent of c-Myc. Id2 did not alter TTF-1- and Pax-8-mediated effects on the regulation of the Tg promoter. Thus, in summary, we found that TSH regulates Id2 expression, but that Id2 does not alter the expression of thyroid-specific genes, such as Tg, in FRTL-5 thyroid cells.
Subject(s)
Animals , Cattle , Rats , Phosphatidylinositol 3-Kinase/metabolism , Cell Differentiation , Cell Proliferation , Gene Expression Regulation , Inhibitor of Differentiation Protein 2/metabolism , Insulin/metabolism , Paired Box Transcription Factors/metabolism , Promoter Regions, Genetic , Proto-Oncogene Proteins c-myc/metabolism , Thyroglobulin/metabolism , Thyroid Gland/cytology , Thyrotropin/metabolismABSTRACT
We present a case of severe hyponatremia in a 64-year-old man who had a pituitary tumor. He had nausea and recurrent vomiting with a severe headache, and was admitted to Chungnam National University Hospital for further evaluation. On physical examination, he was alert, and had bitemporal hemianopsia. There was no indication of dehydration or edema. Laboratory data showed a serum sodium level of 126 mEq/L, plasma osmolality of 259 mOsm/kg, and urinary osmolality of 544 mOsm/kg. The plasma argipressin level was 2.88 pg/mL, despite marked hyposmolality. Otherwise, pituitary function was normal. Brain magnetic resonance imaging showed a pituitary macroadenoma measuring 25x16x13 mm and no visible normal pituitary stalk or gland in the sella turcica. After the adenomectomy, the serum sodium level maintained normal without treatment. Histology showed the presence of a pituitary adenoma. These findings indicate that a non-functioning pituitary tumor may cause the exaggerated secretion of argipressin, resulting in inappropriate antidiuretic hormone syndrome.