Rare monogenic causes of primary adrenal insufficiency.
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| Abstract | :
Monogenic disorders play significant roles in the pathogenesis of childhood-onset primary adrenal insufficiency (PAI). The most common form of PAI is congenital adrenal hyperplasia (CAH), which includes the enzymatic defects of the steroidogenic pathway. This review focuses on less common forms of monogenic PAI (i.e. non-CAH monogenic PAI) with particular attention on their cause, clinical phenotypes and genetic epidemiology. |
| Year of Publication | :
2018
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| Journal | :
Current opinion in endocrinology, diabetes, and obesity
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| Date Published | :
2018
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| ISSN Number | :
1752-296X
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| DOI | :
10.1097/MED.0000000000000401
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| Short Title | :
Curr Opin Endocrinol Diabetes Obes
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