Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

BACKGROUND Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorders of steroid hormone synthesis. OBJECTIVES To investigate the range of ratios and their predictive value in children with suspected disorders of steroid synthesis. DESIGN AND METHODS Twelve ratios were calculated on steroid metabolite data analysed by gas chromatography-mass spectrometry in ur...

Abstract Background Measurement of multiple steroids, 17 hydroxyprogesterone, 11 deoxycortisol, and 21 is required to discriminate between congenital adrenal hyperplasia due hydroxylase deficiency that beta deficiency. This work aims at the selection more appropriate, cost-effective method among either mass spectrometry or radioimmunoassay for quantitation previous steroids. In this study, bloo...

We investigated the effects of trace element deficiency on drug-metabolizing enzymes in rats. Weanling rats were fed a selenium-deficient diet (Torula yeast) or a normal diet (0.5μg selenium) until 20 weeks. After six weeks of the selenium-deficient diet, an increase in aniline hydroxylase activity was observed in the selenium-deficient rats, but the activity of aminopyrine N-demethylase was re...