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.

@article{Bidet2009ClinicalAM,
  title={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.},
  author={Maud Bidet and Christine Bellann{\'e}-Chantelot and M.-B. Galand-Portier and Veronique T V Tardy and Line Billaud and Kathleen Laborde and Christiane Coussieu and Yves Morel and Christelle Vaury and J. L. Golmard and A M Claustre and Etienne Mornet and Zeina Chakhtoura and Ir{\`e}ne Mowszowicz and Anne Bachelot and Philippe Touraine and Fr{\'e}d{\'e}rique Kuttenn},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2009},
  volume={94 5},
  pages={
          1570-8
        }
}
CONTEXT Nonclassical congenital adrenal hyperplasia (NC-CAH) due to partial 21-hydroxylase deficiency is one of the most frequent autosomal recessive diseases. OBJECTIVE The aim of this study was to determine the genotype/phenotype relationship in probands and family members. PATIENTS AND METHODS A total of 161 NC-CAH unrelated women diagnosed on late-onset symptoms, mainly hirsutism, and post-ACTH 17-hydroxyprogesterone more than 10 ng/ml, and 330 of their relatives was explored. CYP21A2… 
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism
TLDR
The unbiased prevalence of non-classic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase (21-OH) deficiency among hyperandrogenic women in a Russian population was 0.9%, and diagnostic value of basal serum 17-hydroxyprogesterone (17-OHP) level to diagnose this disease was evaluated.
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
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
TLDR
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.
Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype
TLDR
Although the CAH phenotype is determined by the allele that produces most of the enzyme activity and the mild non-classical (NC) phenotype should be expected, the mild P30L known to be more virilizing probably induced the classical SV phenotype in this patient.
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia
Biochemical and genetic diagnosis of 21-hydroxylase deficiency
TLDR
Diagnosing classic CAH is life-saving, but diagnosing NCCAH is also important to prevent unnecessary suffering, because unnecessary suffering due to hyperandrogenism, especially in females, can be avoided by a correct diagnosis.
Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families.
TLDR
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.
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
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