By Ricardo Azziz (auth.), Ricardo Azziz MD, MPH, MBA, John E. Nestler MD, Didier Dewailly MD (eds.)
The box of androgen extra problems has complicated considerably because the unique ebook of this booklet. The Androgen extra Society (AES) used to be based to compile investigators within the box. a greater figuring out of the screening, development, and molecular genetics of nonclassic adrenal hyperplasia (NCAH) has enhanced the medical care and diagnostic accuracy of those sufferers. New standards for the prognosis of the polycystic ovary syndrome (PCOS) have been proposed in Rotterdam, standards that experience led to controversy and, expectantly, initiation of recent reviews. The organization of insulin resistance with PCOS has been bolstered, and the position of metformin in tre- ing the infertility of the PCOS has been confirmed. hazards for diabetes and, extra cont- versially, heart problems in ladies with PCOS have bought tremendous research. Our knowing of the epidemiology and financial effect of those problems has improved, emphasizing their severe significance. those are yet a number of highlights of the way the terrain has replaced in a comparatively short time period. in response to those advances, the identify of this e-book has been revised to mirror the starting to be value of PCOS because the so much familiar androgen extra ailment in ladies, and arguably, because the one who may have the main severe adversarial outcomes for normal future health. There are fewer chapters to supply a extra targeted elucidation of the world. numerous chapters have been penned by way of new (and younger) authors who're undertaking state of the art learn within the field.
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Additional info for Androgen Excess Disorders in Women: Polycystic Ovary Syndrome and Other Disorders
First, robust steroid hormone synthesis follows co-transfection of StAR and the cholesterol side-chain cleavage system into nonsteroidogenic COS-1 cells (3,4). Second, patients with mutations of StAR have congenital lipoid adrenal hyperplasia, in which all adrenal and gonadal steroidogenesis is disrupted (4,5). Thus, StAR is needed for the rapid flux of cholesterol from the outer to inner mitochondrial membrane to facilitate acute synthesis of aldosterone following angiotensin II stimulation, of cortisol following ACTH stimulation, and of gonadal sex steroids following LH stimulation.
The key enzyme in DHEA production is P450c17, which catalyzes both 17D-hydroxylation and 17,20-lyase activities. The 17,20-lyase activity of human P450c17 strongly favors the '5 pathway, so that most human androgens and estrogens derive from DHEA. Consequently, understanding the biochemistry and regulation of P450c17, and in particular its 17,20-lyase activity, is central to understanding the hyperandrogenism of PCOS. 4. FUTURE AVENUES OF INVESTIGATION While the pathways of steroidogenesis have been described in textbooks for more than 40 years, much remains to be learned.
15. Yang X, Iwamoto K, Wang M, Artwohl J, Mason JI, Pang S. Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme. Endocrinology 1993;132:1977–1982. 16. Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL. Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. J Clin Endocrinol Metab 2001;86:3820–3825. 17. Katsumata N, Ohtake M, Hojo T, et al.