Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians

  title={Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians},
  author={Fady Hannah-Shmouni and Rachel Morissette and Ninet Sinaii and Meredith Elman and Toni R. Prezant and Wuyan Chen and Ann E. Pulver and Deborah P. Merke},
  journal={Genetics in Medicine},
  pages={1276 - 1279}
PurposeNonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates.MethodsCYP21A2… 
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Outcome studies of CAH have confirmed the uniqueness of this mutation such as difficulties in phenotype classification, different fertility, growth, and psychologic issues in comparison with other genotypes, and different mechanisms for increased androgenization in patients carrying P30L mutation.
Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
The clinical aspects, genotype/phenotype correlations, and other characteristics related to the CYP21A2 In2G variant, which represents the most common CYP 21A2 gene changesrelated to the classic 21OHD form, are analyzed and presented.
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency
Knowledge is mainly based on case reports but many long-term outcomes could be presumed to be similar to other types of CAH, mainly 21-hydroxylase deficiency, although in 3βHSD2D it seems to be more difficult to suppress the androgens.
Comprehensive genotyping of Turkish women with hirsutism
The primary aim of the study is to examine the physical properties of the three genes and to make a detailed comparison of the mutations with the clinical data to contribute the etiology of hirsutism.
The way toward adulthood for females with nonclassic congenital adrenal hyperplasia
Females with NC21OHD may present as asymptomatic or develop a wide range of androgen excess expression and need regular follow up throughout their life in order to overcome the physical and psychological burden of hyperandrogenism.
Triagem neonatal para hiperplasia adrenal congênita : além das concentrações de 17-Hidroxiprogesterona
Newborn Screening (NBS) programs for congenital hypothyroidism provide a model in pediatrics for the development of programs to screen and detect newborn infants for whom early intervention is beneficial.
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Background Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the active 21-hydroxylase gene (CYP21A2). The clinical symptoms can vary greatly. To
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.
Molecular genetic analysis of CYP21A2 variants is of major importance for confirmation of clinical diagnosis, predicting prognosis and for an appropriate genetic counselling in CAH patients performed in the department.
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Evaluating C4A and C4B in patients with CAH in relation to CYP21A2 genotype and psychiatric and autoimmune comorbidity found no association was found between C4 copy number and autoimmune disease.


Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome
Nonclassic congenital adrenal hyperplasia (NCAH) is one of the most frequent autosomal recessive disorders in man with a prevalence ranging from 0.1 % in Caucasians up to a few percent in certain
Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population.
The observed CAH carrier frequency of 9.5% suggests a higher prevalence of CAH heterozygosity in a middle European population than hitherto estimated independently of the individuals' Yugoslav or non-Yugoslav origin.
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Subfertility is mild in NC-CAH, however, the rate of miscarriages is lower in pregnancies occurring with glucocorticoid treatment and argues for treating NC- CAH women wanting pregnancy.
High frequency of nonclassical steroid 21-hydroxylase deficiency.
HLA-B genotype data in families containing multiple members affected with nonclassical 21-hydroxylase deficiency is used together with the results of quantitative hormonal tests to arrive at estimates of gene and disease frequencies for this disorder.
Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families.
Parents diagnosed with NCCAH by genetic testing are mostly asymptomatic, and ongoing glucocorticoid therapy is not indicated in adults with CAH identified by family genotype studies unless symptomatic, but glucoc Corticoid stress coverage should be considered in select cases.
High carrier frequency of 21‐hydroxylase deficiency in Cyprus
Knowing the mutational spectrum of CYP21A2 will enable to optimize mutation detection strategy for genetic diagnosis of 21‐OHD not only in Cyprus, but also the greater Mediterranean region.
21-Hydroxylase-deficient nonclassic adrenal hyperplasia is a progressive disorder: a multicenter study.
The prevalence of hirsutism increased with age, suggesting the progressive nature of nonclassic adrenal hyperplasia, and the adrenocorticotropic hormone-stimulated levels but not the basal levels of 17-hydroxyprogesterone were significantly higher in patients with clitoromegaly than in women without clitoromeGaly.
Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
By identifying the predominant phenotype for a given genotype, these findings should assist physicians in prenatal diagnosis and genetic counseling of parents who are at risk for having a child with CAH.
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Extensive genetic analysis beyond targeted CYP21A2 mutational detection is often required to accurately determine genotype in patients with CAH due to the high frequency of complex genetic variation.
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
The study of family members underlines the variable expression of NC-CAH even within a family, suggesting that modifier factors may modulate phenotype expression.