ABSTRACT
RESUMEN Introducción: la hiperplasia suprarrenal congénita por deficiencia de 11-beta-Hidroxilasa es una enfermedad autosómica recesiva poco frecuente, y en estadios avanzados sus complicaciones cardiovasculares exigen un manejo aún más complejo. Presentación del caso: paciente masculino que inicia pubarca a los 2 años de edad, por lo que se diagnostica hiperplasia suprarrenal congénita por deficiencia de 11-beta-Hidroxilasa, y subsecuente hipertensión desde sus 5 años. Consulta a los 8 años de edad por una intoxicación alimentaria que desencadena una insuficiencia adrenal. Adicionalmente se diagnostica pubertad precoz periférica, melanodermia, hipopotasemia e hipertrofia ventricular izquierda. Requiere manejo con hidrocortisona a dosis de estrés y uso de cinco antihipertensivos. Discusión: el tratamiento determina el pronóstico del paciente; al no realizarse el manejo oportuno puede producirse pubertad precoz e hipertensión arterial con complicaciones irreversibles como deterioro de la talla final y la hipertrofia ventricular izquierda respectivamente.
SUMMARY Introduction: Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is an infrequent autosomal recessive disease and the associated cardiovascular complications in the advanced stages make the management even more complex. Case presentation: A male patient who starts pubarche at 2 years old, therefore, he is diagnosed with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency, and subsequent hypertension from age 5. At eight-years-old, he is hospitalized for a foodborne illness that causes adrenal insufficiency. Additionally, he is diagnosed with peripheral precocious puberty, melanoderma, hypokalemia and left ventricular hypertrophy. He required stress dose of hydrocortisone and five antihypertensives. Discussion: Treatment determines a patient's prognosis. Therefore, once precocious puberty and hypertension produce irreversible complications such as deterioration of the final height and left ventricular hypertrophy respectively, the management is extremely difficult.
Subject(s)
Humans , Child , Puberty, Precocious , Hypertension , Antihypertensive Agents , DosageABSTRACT
Objective: To investigate the effect of CYP 1B 1 (cytochrome P-450 1B1) gene silencing induced by small interference RNA (siRNA) on the proliferation of MDA-MB-231 cells treated with EPA (eicosapentaenoic acid) and AA (arachidonic acid). Methods: The proliferation of MDA-MB-231 cells treated with EPA or AA was detected by CCK-8 (cell counting kit-8) assay. The expression of CYP1B1 was interfered by RNAi (RNA interference) technique. The transfection efficiency was examined by realtime fluorescence quantitative PCR (RFQ-PCR) and Western blotting, respectively. The expression levels of CYP1B1 and COMT (catechol-O -methyltransferase) mRNAs and proteins in MDA-MB-231 cells interfered with siRNA and treated with EPA or AA were determined by RFQ-PCR and Western blotting, respectively. The viability of breast cancer MDA-MB-231 cells interfered with siRNA and treated with EPA or AA was detected by CCK-8 assay. Results: The cell number of EPA-treated group was lower while the cell number of AA-treated group was higher than that of the control group (P <0.05). The expression levels of CYP1B1 mRNA and protein were decreased in MDA-MB-231 cells transfected with CYP1B1 siRNA, while the expression levels of COMT mRNA and protein were increased. The proliferation of MDA-MB -231 cells transfected with CYP1B1 siRNA was inhibited, and the number of MDA-MB -231 cells treated with EPA was significantly higher than that of the negative control group (P <0.05). Conclusion: CYP 1B 1 gene silencing inhibits the proliferation of MDA-MB-231 cells and reverses the inhibitory effect of EPA on the cell proliferation. EPA probably inhibits the cell proliferation through regulating the expression of CYP1B1 in breast cancer. © 2012 by Tumor.
ABSTRACT
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.