DEFECTS OF STEROIDOGENESIS
Anna Biason-Lauber, MD(1), Marco Boscaro, MD(2), Franco Mantero, MD(3), Giancarlo Balercia, MD(2)
University Children’s Hospital, Division of Endocrinology & Diabetology, Steinwiesstrasse 75 CH-8032 Zurich, Switzerland(1), Endocrinology, Dept of Internal Medicine and Applied Biotechnologies, Umberto I Hospital,  School of Medicine, Polytechnic University  of Marche, Ancona, Italy(2), Endocrinology, Dept of Medical and Surgical Sciences, University of Padua,  Italy(3)

In the biosynthesis of steroid hormones the neutral lipid cholesterol, a normal constituent of lipid bilayers is transformed via a series of hydroxylation, oxidation and reduction steps into a vast array of biologically active compounds: mineralocorticoids, glucocorticoids and sex hormones. Glucocorticoids regulate many aspects of metabolism and immune function, whereas mineralocorticoids help maintain blood volume and control renal excretion of electrolytes. Sex hormones are essential for sex differentiation in male and  support reproduction. They include androgens, estrogens, and progestins. A block in the pathway of steroid biosynthesis leads to the lack of hormones downstream and accumulation of the upstream compounds that can activate other members of the steroid receptor family. This review deals with the clinical consequences of these blocks.

DOI: 10.3275/6869 pubblicato: 24.02.2010 [« Indietro]  [Manoscritto accettato]