[Genetics of congenital adrenal hyperplasia caused by steroid-21-hydroxylase deficiency: present-day aspects].
Congenital adrenal hyperplasia caused by a deficiency of 21-hydroxylase is an inherited disorder of adrenal steroidogenesis. In this study, the deficiency incidence is presented according to different author's and countries' results. Nowadays knowledge concerning its genetics are reviewed, especially HLA linkage. Allelic variants of deficiency and the "linkage disequilibrium" with HLA complete antigens are described. Finally, the main applications of that knowledge are presented: heterozygote detection and prenatal diagnosis.
Moreno Aznar
L
L
Departamento de Pediatria, Facultad de Medicina, Zaragoza.
Sarriá Chueca
A
A
Bueno Lozano
G
G
Bueno Sánchez
M
M
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D006801:Humans
Genética de la hiperplasia congénita de las suprarrenales por déficit de la enzima 21-hidroxilasa: aspectos actuales.