Congenital Adrenal Hyperplasia Because of 21-Hydroxylase Deficiency: A Genetic Disorder of Interest to Obstetricians and Gynecologists

@article{Trakakis2009CongenitalAH,
  title={Congenital Adrenal Hyperplasia Because of 21-Hydroxylase Deficiency: A Genetic Disorder of Interest to Obstetricians and Gynecologists},
  author={Eftihios Trakakis and Constantine Loghis and Demetrios P Kassanos},
  journal={Obstetrical \& Gynecological Survey},
  year={2009},
  volume={64},
  pages={177-189}
}
Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH), is distinguished in its classical and nonclassical form and is one of the most common autosomal recessive inherited diseases in humans. The classical form appears between 1:5000 and 1:15000 among the live neonates of North America and Europe, whereas the nonclassical form occurs in approximately 0.2% of the general white populations. Three alleles are associated with the 21-OH locus and can be combined… 
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References

SHOWING 1-10 OF 101 REFERENCES
Clinical, classical and molecular genetics of 21-hydroxylase deficiency
Congenital adrenal hyperplasia due to deficiency of the enzyme 21-hydroxylase (21-OH) is divided into the classical and non-classical forms. It is one of the most common autosomal recessive inherited
21-hydroxylase deficiency: From molecular genetics to clinical presentation
Congenital adrenal hyperplasia due to deficiency of the enzyme 21-hydroxylase (21-OH), a cytochrome P450 enzyme located in the endoplasmic reticulum and which catalyzes the conversion of
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
  • M. Forest
  • Biology, Medicine
    Human reproduction update
  • 2004
TLDR
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.
Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
  • P. White, M. New
  • Medicine, Biology
    The Journal of clinical endocrinology and metabolism
  • 1992
TLDR
Most cases of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol, are caused by a deficiency of the 21-hydroxylase activity required to convert 17-hydroxyprogesterone to 11-deoxycortisol, and it appears that these forms are inherited as allelic variants.
Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.
TLDR
Close genetic linkage between HLA and 21-OHCRYPTIC was established and provides support for the previously reported heterogeneity of 21-hydroxylase deficiency which may result from allelic variability at the locus for steroid 21-Hydroxylases.
Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.
TLDR
The high frequency of deletion of CYP21B gene, I2 splice, R357W, and Q319X mutations probably reflects the European-Caucasian-Spanish influence of the conquerors, mixed with Amerindians of Asian ancestry and modulated by other European immigrations.
Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.
TLDR
Heterozygosity for CYP21 mutations does not appear to increase the risk of clinically evident hyperandrogenism, although carrying the defect was associated with higher mean and free T levels, and the frequency of FAE among carriers was not significantly higher than expected.
The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.
TLDR
Adrenal NC-CAH due to 21-OHdef as well as adrenal hyperactivity, revealed after ACTH testing, constitutes an important reason of hirsutism and PCOS in these Greek women and both reach a rate of 20%.
Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
TLDR
Complete analysis of the CYP21 gene was performed in 56 unrelated French women with symptomatic nonclassical congenital congenital adrenal hyperplasia, finding thatVariability in phenotypic expression may be conditioned by mechanisms other than genetic heterogeneity at the CYp21 locus.
Non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in families from a Greek island with a closed society.
TLDR
In this study population, a high incidence of a clinically asymptomatic form of 21-OHdef was found only after the ACTH stimulation test, and the Marina index seems to be of high diagnostic value in classifying disease severity.
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