HIPERPLASIA ADRENAL CONGENITA PDF

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.

Pang S. Congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics ; The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. Engl J Med ; Hershlag A. Peterson CM. Trastornos Endocrinos. Mc Graw-Hill. Mortality in patients with congenital adrenal hyperplasia: A cohort study. Journal of Pediatrics ; New approaches to the treatment of congenital adrenal hyperplasia. JAMA ; In: Koren G. Ito S. Mac Graw-Hill. Rebar RW. Results of Screening 1.

Pediatrics ; Nader S. Other endocrine disorders of pregnancy. Maternal fetal medicine. Principles and practice W. Clinical review Nonclassic adrenal hyperplasia. Current concepts. J Clin Endocrinol Metab ; Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia. N Engl J Med ; Miller WL. Pathophysiology, genetics, and treatment of hyperandrogenism. Pediatric Clinics of North America ; Henao G. Hiperplasia Suprarrenal.

Editorial Carvajal S. Clinical gynecologic endocrinology and infertility. Sixth ed. Fertility in women with late-onset adrenal hyperplasia due to hydroxylase deficiency. Congenital adrenal hyperplasia presenting as massive adrenal incidentalomas in the sixth decade of life: Report of two patients with Hydroxylase deficiency. Cook DM. Diagnostic Evaluation Update Adrenal Mass. Endocrinolgy and Metabolism Clinics, ; Incidentally discovered adrenal tumors: Endocrine and scintigraphic correlates.

Adrenal incidentaloma and patients with homozygous or heterozygous congenital adrenal hyperplasia. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for hydroxyprogesterone levels. J Pediatr ; Cali Colombia, ; Overdiagnosis of hydroxylase late onset congenital adrenal hyperplasia: correlation of corticotropin tets and human leukocyte antigen typing. Fertility and sterility, ; Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21 hydroxylase deficiency.

Levine LS, Pang S. Prenatal diagnosis and treatment of congenital adrenal hyperplasia. J Pediatr Endocrinol ; 3: Schwitzgebel VM. Normal females infants born of mothers with classic congenital adrenal hyperplasia due to Hydroxylase deficiency, J Clin.

Endocrinol Metab ; Carmina E, Lobo RA. Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21 hydroxylase deficiency. Fertility and sterility ; Maternal side effects of prenatal dexamethasone therapy for fetal congenital adrenal hyperplasia. Am J Obstet Gynecol ; Universidad Industrial de Santander. Jefe Unidad de Medicina Reproductiva.

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Hiperplasia adrenal congĂȘnita

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.

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