Adrenogenital'nyy sindrom: sovremennye aspekty diagnostiki i lecheniya
- Autores: Kareva M.A.1
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Afiliações:
- Edição: Nº 1s (2011)
- Páginas: 34-39
- Seção: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/278778
- ID: 278778
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Resumo
Adrenogenital syndrome (AGS, congenital dysfunction of adrenal cortex - CDAC, congenital adrenal cortical hyperplasia - CACH) is a group of autosomal recessive disorders, which are based on a defect of one of the enzymes of steroidogenesis. ACS is a relatively common, manifested in adrenal insufficiency, a violation of the formation of sex or premature sexual development. Without appropriate replacement therapy, the disease poses a threat to the patient's life, especially in the neonatal period. Early diagnosis and treatment allow the patient and his family a good quality of life and full socioenvironmental adaptation. Since 2006, in Russia AGS is included in the “national priority projects" and neonatal screening is introduced.
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Bibliografia
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