Congenital adrenal hyperplasia due to 21‐hydroxylase deficiency

@article{Nimkarn2010CongenitalAH,
  title={Congenital adrenal hyperplasia due to 21‐hydroxylase deficiency},
  author={Saroj Nimkarn and Maria I. New},
  journal={Annals of the New York Academy of Sciences},
  year={2010},
  volume={1192}
}
  • S. Nimkarn, M. New
  • Published 1 April 2010
  • Medicine, Biology
  • Annals of the New York Academy of Sciences
21‐Hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), an inherited disorder of steroidogenesis. In its severe form, CAH causes genital ambiguity in females. Molecular genetic analysis of fetal DNA obtained by amniocentesis or chorionic villus sampling is used to diagnose steroid 21‐OHD deficiency in utero. Large ongoing studies show that appropriate prenatal treatment of pregnant mothers with dexamethasone is effective and safe for both the fetus and the… 
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  • 2014
TLDR
The fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation, representing a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders.
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TLDR
TRIC is used to correctly identify male fetal DNA when both parents were carriers of the mutation that produces CAH and previously produced an affected child, demonstrating the utility of TRIC to accurately identify fetal gender as a means of reducing the need for prophylactic administration of exogenous steroids in pregnancies at risk of CAH.
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Prenatal Dexamethasone for Congenital Adrenal Hyperplasia
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A history of the use of dexamethasone in pregnant women at risk of carrying a female fetus affected by congenital adrenal hyperplasia (CAH) is provided and ethical problems are mapped out.
Novel Therapies for Treating Short Stature withCongenital Adrenal Hyperplasia
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Effectiveness of novel approaches to address Congenital adrenal hyperplasia are documented and compared, suggesting widespread implementation of these treatment strategies should be tested with the expectation of being recommended as the standard of care.
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