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

圖表證明

separate

一條卷發(fā)

壓倒性勝利

Adrenal Insufficiency, gland, rare inherited disorders or secondary to hypothalamic and pituitary disturbance..Urine steroid profiles are primarily of use in the evaluation of suspected biosynthetic defects but may also be required for the initial investigation of an early presentation of adrenal failure of any cause.

Forehead-Lift

防銹

分解

,3β-Hydroxysteroid Dehydrogenase/Isomerase Deficiency,yperplasia and of 46XY and 46XX disorders of sex development (DSD). The disorder is characterised by excretion of excessive amounts of steroids with a double bond in the steroid B ring, the so-called Δ5 steroids, including dehydroepiandrosterone (DHEA) and its metabolites.

Painstaking

做事過頭

Aldosterone Synthase Deficiency,nherited as an autosomal recessive trait due to loss of function mutations in ., and it is extremely rare. The characteristic biochemical features are hyperreninaemic hypoaldosteronism. It is possible to make the diagnosis of this disorder using a urine steroid profile taken during a salt-losing episode.

Microaneurysm

,17β-Hydroxysteroid Dehydrogenase Deficiency,lar androgen production - a similar phenotype to androgen insensitivity and 5α-reductase deficiency. Biochemical diagnosis can be made by measurement of serum steroids prior to gonadectomy; otherwise genetic testing is essential.