Congenital adrenal hyperplasia due to 21‐hydroxylase deficiency

  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},
  • 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… 
Congenital adrenal hyperplasia in pregnancy: approach depends on who is the ‘patient’
Prenatal treatment for CAH and prenatal therapy for prevention of virilization of possibly affected female children, dexamethasone is used, however, questions remain about the efficacy and safety of exposing 7/8 unaffected children in the first trimester.
Gestational Hyperandrogenism in Developmental Programming
The present report reviews the various phenotypes of hyperandrogenism during pregnancy and its origin, pathophysiology, and the effect of hyper androgenism on the fetal developmental trajectory and offspring consequences.
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.
  • M. New, Y. Tong, Y. Lo
  • Medicine, Biology
    The Journal of clinical endocrinology and metabolism
  • 2014
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.
Trophoblast Retrieval and Isolation From the Cervix for Noninvasive, First Trimester, Fetal Gender Determination in a Carrier of Congenital Adrenal Hyperplasia
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.
Treatment and health outcomes in adults with congenital adrenal hyperplasia
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Prenatal Dexamethasone for Congenital Adrenal Hyperplasia
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
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.


Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
An in-depth exploration of the complex and potentially life-threatening condition, congenital adrenal hyperplasia (CAH), which affects adrenal gland function, resulting in abnormal steroidogenesis caused by a deficiency or complete lack of the enzyme 21-hydroxylase.
Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency.
Encouraging results open a new prospect for treating congenital adrenal hyperplasia in utero by treating mothers at risk with either hydrocortisone or dexamethasone in early pregnancy.
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
  • M. Forest
  • Biology, Medicine
    Human reproduction update
  • 2004
Prenatal diagnosis by direct mutation detection in previously genotyped families permits prenatal treatment of affected females in order to avoid or minimize genital virilization, and the state of heterozygotism can be predicted by hormonal testing and confirmed by molecular studies.
Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency.
Proper prenatal diagnosis and treatment of 21-OHD is effective in significantly reducing or eliminating virilization in the affected female, which spares the newborn female the consequences of genital ambiguity, i.e. genital surgery, sex misassignment, and gender confusion.
Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies.
Prenatal diagnosis and proper prenatal treatment of 21-OHD are effective in significantly reducing or eliminating virilization in the newborn female, and spares the affected female the consequences of genital ambiguity, genital surgery, and possible sex misassignment.
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.
The results indicated that the rate of occurrence of the heterozygous CAH carrier was about 12 in 1,000, with a gene frequency of 0.0060 and an incidence frequency of 1 in 28,000 in the Chinese population.
An Update of Congenital Adrenal Hyperplasia
  • M. New
  • Medicine, Biology
    Annals of the New York Academy of Sciences
  • 2004
Abstract: Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.
  • M. New, R. C. Wilson
  • Medicine, Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1999
Our research team and laboratories have concentrated on two inherited endocrine disorders, congenital adrenal hyperplasia (CAH) and apparent mineralocorticoid excess, in thier investigations of the