21-hydroxylase deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2] Ahmad Al Maradni, M.D. [3]

Synonyms and keywords: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; 21-hydroxylase deficient congenital adrenal hyperplasia; CAH1; CYP21A deficiency; Congenital adrenal hyperplasia 1

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | CT | MRI | Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case#1

• Ambiguous genitalia
• Female pseudohermaphroditism
• Adrenal insufficiency

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