Labels:text | screenshot | black and white | black | font | document OCR: Each of these disorders is the result of r deficiency autosomal recessive mutations. 30-HSD eficiency ofusually results in salt wasting; variable the enzyme in the adrenal and liver ma complicate diagnosis. 17ct-hydroxylase a hgle 17,20-lyase reactions are mediated by a si ny some enzyme, P45017cc, and it is not known w. patients have selective impairment of o iciency enzymatic function. 17x-hydroxylase de pertension,results in hypokalaemic alkalosis and hy OR in addition to gonadal deficiency. 17B-H of the deficiency is probably the most common y female, defects. The external phenotype is usual ilised but inguinal or abdominal testes and vir he time of Wolffian duct structures are present. At ic expected puberty, both virilisation (phal some enlargement and facial hair growth) and tia) ta ...
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