Sökning: "congenital adrenal hyperplasia"

Visar resultat 1 - 5 av 21 avhandlingar innehållade orden congenital adrenal hyperplasia.

1. 1. 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

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. 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

5. 4. 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

7. 5. Long-term effects of pre- and postnatal glucocorticoid treatment in congenital adrenal hyperplasia

   Författare :Leif Karlsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mostly caused by mutations in the CYP21A2 gene leading to impaired production of cortisol and aldosterone. Precursors in the steroidogenic pathway are shunted to pathways of androgen production and elevated levels of androgens may cause virilization of the external genitalia in females with CAH already in utero. LÄS MER