Sökning: "21-hydroxylase deficiency"

Hittade 5 avhandlingar innehållade orden 21-hydroxylase deficiency.

  1. 1. Congenital adrenal hyperplasia, CYP21 deficiency, screening and clinical aspects

    Författare :Anna Nordenström; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Congenital adrenal hyperplasia; 21 -hydroxylase deficiency; CYP21; neonatal screening; 17-OHP; sex-typed behavior; toy play.;

    Sammanfattning : Congenital adrenal hyperplasia (CAH) is a group of recessively inherited disorders. More than 90% of all cases of CAB are caused by 21-hydroxylase deficiency. This enzyme deficiency results in reduced ability to synthesize cortisol and aldosterone and at the same time increased secretion of androgens. LÄS MER

  3. 2. Molecular analysis of mutated P450c21 in congenital adrenal hyperplasia

    Författare :Svetlana Lajic; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Congenital adrenal hyperplasia; 21-hydroxylase deficiency; P450c21; itl vitro expression; COS- I; functional analysis; prenatal treatment;

    Sammanfattning : Defects in cytochrome P450c21 (21-hydroxylase, 210H) are the most common causes of congenital adrenal hyperplasia (CAH). This recessively inherited disorder demonstrates a wide spectrum of severity as a consequence of impaired production of cortisol and aldosterone and excessive secretion of adrenal androgens. LÄS MER

  4. 3. Functional and structural studies on CYP21 mutants in congenital adrenal hyperplasia

    Författare :Tiina Robins; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Congenital adrenal hyperplasia; CAH; CYP21; enzyme activity; modeling; genotype phenotype relationships; structure function relationships.;

    Sammanfattning : Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. A defect in the gene encoding steroid 21-hydroxylase, CYP21, results in impaired synthesis of cortisol and in most cases also aldosterone. LÄS MER

  5. 4. Metabolic and cognitive effects after early prenatal dexamethasone treatment

    Författare :Lena Wallensteen; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency (21OHD), is a disease with an inborn error of the adrenal steroid synthesis. This enzyme deficiency leads to cortisol shortage and androgen excess. LÄS MER

  7. 5. Congenital adrenal hyperplasia in adults

    Författare :Henrik Falhammar; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid synthesis. More than 95% of CAH cases are caused by reduced 21-hydroxylase function leading to variable extent of cortisol and aldosterone deficiency in addition to androgen excess. The foundation of CAH treatment is the use of glucocorticoids. LÄS MER