Titlebook: Disorders of Steroidogenesis; Guide to Steroid Pro Gill Rumsby,Gary M. Woodward Book 2019 Springer International Publishing AG, part of Spr

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Overview of Adrenocortical Pathophysiology,A brief review of adrenal physiology and steroidogenesis is given followed by a more comprehensive overview of adrenal pathophysiology. Inherited and acquired steroidogenic pathologies are described in the context of steroid excess and steroid deficiency.

倔强一点

,11β-Hydroxylase Deficiency,The 11β-hydroxylase enzyme catalyses the final step in cortisol biosynthesis. Deficiency of the enzyme accounts for approximately 5% of cases of congenital adrenal hyperplasia and is characterised by virilisation, hypertension and an excessive output of urinary metabolites derived from the cortisol precursor, 11-deoxycortisol.

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Steroid Sulphotransferase and Sulphatase Deficiency,The conjugation of steroid hormones with sulphate provides a means of excretion and inactivation of such steroids but also, and perhaps more importantly, provides a pool of steroid that can be reactivated intracellularly. The relationship of the sulphotransferase and sulphatase enzymes is discussed along with problems arising in deficiency states.

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情感脆弱

Ping Du,Maoke Chen,Akihiro Nakaoen synthesis in the male and is a cause of 46XY disorder of sex development. Overproduction of steroids with mineralocorticoid properties can lead to low renin hypertension in both sexes. The urine steroid profile is characterised by excess progesterone and corticosterone metabolites.

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https://doi.org/10.1007/978-3-642-14740-1iew of cholesterol biosynthesis is presented with more in-depth coverage of two disorders in which a urine steroid profile can play a role in the diagnosis: cytochrome P450 oxidoreductase deficiency and Smith-Lemli-Opitz syndrome.

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暂时过来

Gill Rumsby,Gary M. WoodwardOnly text for steroid profile interpretation.Contains graphic representations and illustrations.Utilises unique reference data collected over 30 years of clinical practice

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