Abstract
Aims Mutations in Steroidogenic Acute Regulatory protein (StAR) cause congenital lipoid adrenal hyperplasia (lipoid CAH), characterized by absent steroidogenesis, potentially lethal salt loss, 46,XY sex reversal and massively enlarged adrenals engorged with cholesterol esters. Nonclassic lipoid CAH is a recently recognized disorder caused by StAR mutations that retain partial function. We aim to delineate the clinical and mutational spectrum of StAR mutations in patients with lipoid CAH.
Highlights
Mutations in Steroidogenic Acute Regulatory protein (StAR) cause congenital lipoid adrenal hyperplasia, characterized by absent steroidogenesis, potentially lethal salt loss, 46,XY sex reversal and massively enlarged adrenals engorged with cholesterol esters
Nonclassic lipoid CAH is a recently recognized disorder caused by StAR mutations that retain partial function
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Summary
Kansuda Ariyawatkul1*, Patra Yeetong[1], Somchit Jaruratanasirikul[2], Kah Yin Loke[3], Pairunyar Nakavachara[4], Chawkaew Kongkanka[5], Taninee Sahakitrungruang[1]. From 8th APPES Biennial Scientific Meeting Darwin, Australia. Aims Mutations in Steroidogenic Acute Regulatory protein (StAR) cause congenital lipoid adrenal hyperplasia (lipoid CAH), characterized by absent steroidogenesis, potentially lethal salt loss, 46,XY sex reversal and massively enlarged adrenals engorged with cholesterol esters. Nonclassic lipoid CAH is a recently recognized disorder caused by StAR mutations that retain partial function.
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