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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Ann+Pediatr+Endocrinol+Metab
2016 ; 21
(1
): 1-6
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gab.com Text
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Recent advances in biochemical and molecular analysis of congenital adrenal
hyperplasia due to 21-hydroxylase deficiency
#MMPMID27104172
Choi JH
; Kim GH
; Yoo HW
Ann Pediatr Endocrinol Metab
2016[Mar]; 21
(1
): 1-6
PMID27104172
show ga
The term congenital adrenal hyperplasia (CAH) covers a group of autosomal
recessive disorders caused by defects in one of the steroidogenic enzymes
involved in the synthesis of cortisol or aldosterone from cholesterol in the
adrenal glands. Approximately 95% of all CAH cases are caused by 21-hydroxylase
deficiency encoded by the CYP21A2 gene. The disorder is categorized into
classical forms, including the salt-wasting and the simple virilizing types, and
nonclassical forms based on the severity of the disease. The severity of the
clinical features varies according to the level of residual 21-hydroxylase
activity. Newborn screening for CAH is performed in many countries to prevent
salt-wasting crises in the neonatal period, to prevent male sex assignment in
affected females, and to reduce long-term morbidities, such as short stature,
gender confusion, and psychosexual disturbances. 17?-hydroxyprogesterone is a
marker for 21-hydroxylase deficiency and is measured using a radioimmunoassay, an
enzyme-linked immunosorbent assay, or a fluoroimmunoassay. Recently, liquid
chromatography linked with tandem mass spectrometry was developed for rapid,
highly specific, and sensitive analysis of multiple analytes. Urinary steroid
analysis by gas chromatography mass spectrometry also provides qualitative and
quantitative data on the excretion of steroid hormone metabolites. Molecular
analysis of CYP21A2 is useful for genetic counseling, confirming diagnosis, and
predicting prognoses. In conclusion, early detection using neonatal screening
tests and treatment can prevent the worst outcomes of 21-hydroxylase deficiency.