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Update in Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

    1. [1] Division of Pediatric Endocrinology, Department of Pediatrics, Weill Cornell Medicine, New York, USA
  • Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 55, Nº. 2, 2026, págs. 201-222
  • Idioma: inglés
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  • Resumen
    • CAH is a group of inherited disorders caused by deficiencies in the enzymes involved in steroid biosynthesis, resulting in impaired cortisol production. Diagnosis relies on characteristic serum and urine biochemical profiles, with genetic testing used for confirmation. Management remains challenging due to both disease-related complications and treatment-related adverse effects. However, recent advances in nonglucocorticoid adjunct therapies represent a significant step forward in the treatment


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