TITLE

Polycystic Ovaries and Adrenal Insufficiency in a Young Pubescent Female with Lipoid Congenital Adrenal Hyperplasia Due to Splice Mutation of the StAR Gene: A Case Report and Review of the Literature

AUTHOR(S)
Jehaimi, Cayce T.; Araiza, Virginia C.; Batish, Sat D.; Brosnan, Patrick G.
PUB. DATE
December 2010
SOURCE
Journal of Pediatric Endocrinology & Metabolism;Dec2010, Vol. 23 Issue 12, p1225
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
The article describes the case of a 16-year old Mexican female patient who has lipoid congenital adrenal hyperplasia (LCAH) due to a spliced steroidogenic acute regulatory (StAR) gene mutation. The patient also presented with congenital adrenal hyperplasia (CAH), a salt wasting crisis and hypoglycemia. Testing of her StAR gene was performed and the entire coding region was analyzed. Also discussed is the homozygous sequence variant that is connected to LCAH.
ACCESSION #
58017881

 

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