17-beta-hydroxysteroid dehydrogenase deficiency

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congenital adrenal hyperplasia due to CYP17A1 deficiencies
OMIM 264300
DiseasesDB 32638

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Phone:617-632-7753

Synonyms and keywords: HSD17B10 deficiency; HSD10 deficiency; 3-hydroxyacyl-CoA dehydrogenase II deficiency; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; MHBD deficiency

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Molecular Genetic Studies | Genotyping | Pelvic X Ray | CT | Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

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

Case Studies

Case #1


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