Summary Congenital adrenal hyperplasia is the most common adrenal disorder in childhood and the most frequent cause of sexual ambiguity. The initial diagnosis of hidroxylase deficiency is made by plasma levels 17 hydroxiprogesterone and the diagnosis can be done in pregnancy. The medical treatment is mainly glucocorticoid therapy; also treatment can be performed in pregnancy. An overview of the main aspects of congenital adrenal hyperplasia is made, emphasis is done in 21 hydroxylase deficiency. Los fetos masculinos no son afectados1.
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Summary Congenital adrenal hyperplasia is the most common adrenal disorder in childhood and the most frequent cause of sexual ambiguity. The initial diagnosis of hidroxylase deficiency is made by plasma levels 17 hydroxiprogesterone and the diagnosis can be done in pregnancy. The medical treatment is mainly glucocorticoid therapy; also treatment can be performed in pregnancy.
An overview of the main aspects of congenital adrenal hyperplasia is made, emphasis is done in 21 hydroxylase deficiency. Los fetos masculinos no son afectados1. Entre 0. La terapia con glucorticoides en algunas mujeres no obstante no es satisfactoria para eliminar el hirsutismo.
Muchos pacientes no sobrepasan la infancia temprana. La testosterona y la androstenodiona son normales o ligeramente elevadas3. Los genitales externos son normales en mujeres, pero puede haber falla en la adrenarquia y pubarquia13,14, y causa pseudohermafroditismo masculino La deficiencia de esta enzima impide el paso de DOCA a corticosterona y de desoxicortisol a Cortisol. Los fetos femeninos tienen genitales externos masculinizados e internos normales El tratamiento se hace con glucocorticoides como en las formas anteriores Deficiencia de 18 hidroxiesteroide deshidrogenasa.
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Hiperplasia adrenal congênita
Treatment of all forms of CAH may include any of: Supplying enough glucocorticoid to reduce hyperplasia and overproduction of androgens or mineralocorticoids Providing replacement mineralocorticoid and extra salt if the person is deficient Providing replacement testosterone or estrogens at puberty if the person is deficient Additional treatments to optimize growth by delaying puberty or delaying bone maturation All of these management issues are discussed in more detail in congenital adrenal hyperplasia due to hydroxylase deficiency. Dexamethasone is used as an off-label early prenatal treatment for the symptoms of CAH in female fetuses, but it does not treat the underlying congenital disorder. A Swedish clinical trial found that treatment may cause cognitive and behavioural defects, but the small number of test subjects means the study cannot be considered definitive. A American study found no negative short term outcomes, but "lower cognitive processing in CAH girls and women with long-term DEX exposure. Due to advances in modern medicine, those couples with the recessive CAH genes have an option to prevent CAH in their offspring through preimplantation genetic diagnosis PGD. On the 3rd day, when the embryo has developed from one cell to about 4 to 6 cells, one of those cells is removed from the embryo without harming the embryo. The embryo continues to grow until day 5 when it is either frozen or implanted into the mother.
Congenital adrenal hyperplasia
Hiperplasia Adrenal Congénita