Article
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 Journal of clinical endocrinology and metabolism - 1 May 2009
Bidet Maud, Bellanné-Chantelot Christine, Galand-Portier Marie-Béatrice, Tardy Véronique, Billaud Line, Laborde Kathleen, Coussieu Christiane, Morel Yves, Vaury Christelle, Golmard Jean-Louis, Claustre Aurélie, Mornet Etienne, Chakhtoura Zeina, Mowszowicz Irene, Bachelot Anne, Touraine Philippe, Kuttenn Frédérique
Abstract excerpt
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 METHO...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Child
- Cohort Studies
- Female
- Genetics
- Genotype
- Heterozygote
- Histocompatibility Testing