Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.

Keyphrases

• Genetic Defects 100%
• CYP21A2 mutations 100%
• Hyperandrogenemia 100%
• Adolescent Females 100%
• Premature Adrenarche 100%
• 17-hydroxyprogesterone (17-OHP) 75%
• CYP21A2 Gene 75%
• High Risk 50%
• Hyperandrogenism 50%
• Large Deletion 50%
• Direct Sequencing 25%
• Autosomal Recessive 25%
• MLPA Analysis 25%
• Systematic Evaluation 25%
• Exon 1 25%
• Molecular Diagnostics 25%
• Heterozygosity 25%
• Clinical Signs 25%
• Congenital Adrenal Hyperplasia 25%
• Heterozygote 25%
• Androgen Excess 25%
• Frequent mutation 25%
• Exon 6 25%
• Mutation Type 25%
• Hormonal Response 25%
• ACTH Stimulation 25%
• DNA Sequence Analysis 25%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Adrenarche 100%
• Adolescence 100%
• Exon 50%
• Adrenocorticotropic Hormone 50%
• Prevalence 25%
• Multiplex Ligation-Dependent Probe Amplification 25%
• Autosomal Recessive Disorder 25%
• DNA Sequence 25%
• Heterozygosity 25%
• Genetic Carrier 25%
• Heterozygote 25%
• Blood Plasma 25%