Defects of steroidogenesis.
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.
Biason-Lauber
A
A
University Children's Hospital, Division of Endocrinology and Diabetology, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland. anna.lauber@kispi.uzh.ch
Boscaro
M
M
Mantero
F
F
Balercia
G
G
D000818:Animals; D002784:Cholesterol / Q000378:metabolism; D012734:Disorders of Sex Development / Q000209:etiology; D004700:Endocrine System Diseases / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D005260:Female; D012739:Gonadal Steroid Hormones / Q000096:biosynthesis* / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D050356:Lipid Metabolism / Q000235:genetics; D008297:Male; D008954:Models, Biological; D013256:Steroids / Q000096:biosynthesis*; D014883:Water-Electrolyte Imbalance / Q000209:etiology
D012739:Gonadal Steroid Hormones; D013256:Steroids; D002784:Cholesterol