Recent advances in diagnosis,treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
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Authors: | Felix G Riepe Wolfgang G Sippell |
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Affiliation: | 1.Division of Pediatric Endocrinology, Department of Pediatrics,Christian-Albrechts-Universit?t Kiel,Kiel,Germany |
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Abstract: | Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal-recessive disease causing cortisol
deficiency, aldosterone deficiency and hyperandrogenism. Diagnosis of 21-OHD is confirmed by steroid analysis in newborn screening
or later on. Standard medical treatment consists of oral glucocorticoid and mineralocorticoid administration in order to suppress
adrenal androgens and to compensate for adrenal steroid deficiencies. However, available treatment is far from ideal, and
not much is known about the long-term outcome in CAH as trials in patients in adulthood or old age are rare. Here we briefly
describe the pathophysiology, clinical picture, genetics and epidemiology of 21-OHD. This is followed by a comprehensive review
of the recent advances in diagnosis, treatment and outcome. Novel insights have been gained in the fields of newborn screening,
specific steroid measurement utilizing mass spectrometry, genetics, glucocorticoid stress dosing, additive medical therapy,
prenatal treatment, side-effects of medical treatment, adrenomedullary involvement, metabolic morbidity, fertility and gender
identity. However, many issues are still unresolved, and novel questions, which will have to be answered in the future, arise
with every new finding. |
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Keywords: | Congenital adrenal hyperplasia 21-hydroxylase deficiency Newborn screening Steroid detection Mortality Growth Fertility |
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