Lipoid congenital adrenal hyperplasia overview: Difference between revisions
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==Overview== | ==Overview== | ||
'''Lipoid congenital adrenal hyperplasia''' is an uncommon form of [[congenital adrenal hyperplasia|CAH]] resulting from defects in the earliest stages of [[adrenal gland|adrenal]] [[cortisol]] synthesis: the transport of [[cholesterol]] into the [[mitochondrion|mitochondria]] of the cells of the adrenal cortex and the conversion to [[pregnenolone]]. Lipoid CAH causes [[mineralocorticoid]] deficiency in all affected infants and children. XY infants (genetic males) are severely [[virilization|undervirilized]] and are usually assigned and raised as girls. The adrenals are large and filled with [[lipid]] globules derived from cholesterol. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 20:24, 19 September 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Lipoid congenital adrenal hyperplasia is an uncommon form of CAH resulting from defects in the earliest stages of adrenal cortisol synthesis: the transport of cholesterol into the mitochondria of the cells of the adrenal cortex and the conversion to pregnenolone. Lipoid CAH causes mineralocorticoid deficiency in all affected infants and children. XY infants (genetic males) are severely undervirilized and are usually assigned and raised as girls. The adrenals are large and filled with lipid globules derived from cholesterol.