Steroid 17α-Hydroxylase Deficiency—Not Rare Everywhere
نویسندگان
چکیده
منابع مشابه
CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency
17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenital adrenal hyperplasia and a rare cause of hypertension with hypokalemia. The CYP17A1 gene mutation leads to 17OHD and its clinical features. We described an 18 y/o female with clinical features of 17α-hydroxylase/17, 20-lyase deficiency and characterized the functional consequences of an intronic ...
متن کاملRegulation of steroid hydroxylase gene expression and steroid hormone biosynthesis.
In our test system, the action of glucagon o n steroid oxidation follows a dose-response relationship similar to its actions on diacylglycerol generation and not on cyclic AMP generation [ 171. The fact that it does not act via activation of adenylate cyclase and generation of cyclic AMP was proved by the usc of I-N-a-trinitrophenylhistidine12-homoarginine glucagon (TH)-glucagon, an analogue of...
متن کاملRole of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans.
A gene encoding steroid 18-hydroxylase (P-450C18) was isolated from a human genomic DNA library. It was identified as CYP11B2, which was previously postulated to be a pseudogene or a less active gene closely related to CYP11B1, the gene encoding steroid 11 beta-hydroxylase (P-45011 beta) [Mornet, E., Dupont, J., Vitek, A. & White, P. C. (1989) J. Biol. Chem. 264, 20961-20967]. The nucleotide se...
متن کاملIncreased protein expression of LHCG receptor and 17α-hydroxylase/17-20-lyase in human polycystic ovaries.
STUDY QUESTION Does the expression of LHCG receptor (LHCGR) protein and key enzymes in the androgen biosynthetic pathway differ in normal human versus polycystic ovarian tissue? SUMMARY ANSWER LHCGR and 17α-hydroxylase/17-20-lyase (CYP17A1) protein levels are increased in polycystic ovaries (PCOs). WHAT IS KNOWN ALREADY The predominant source of excess androgen secretion in women with polyc...
متن کاملLimited Expression of Cytochrome P450 17α-Hydroxylase/17,20-Lyase in Prostate Cancer Cell Lines
PURPOSE Cytochrome P450 17α-hydroxylase/17,20-lyase (CYP17A1) is a key enzyme in the androgen biosynthesis pathway. CYP17A1 has been focused on because of the promising results of a potent CYP17A1 inhibitor in the treatment of castration-resistant prostate cancer (CRPC). A hypothesis that intratumoral androgenesis may play a role in the progression of CRPC has recently been postulated. Thus, we...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2004
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2003-031770