5-alpha-reductase deficiency overview

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5-alpha-reductase deficiency Microchapters

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Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating 5-alpha-reductase 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

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Treatment

Medical Therapy

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Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

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Case #1

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

Overview

5-alpha-reductase deficiency (5-ARD) is an autosomal recessive disorder of sex development (DSD, formerly known as intersex) caused by a mutation of the 5-alpha reductase type 2 gene.[1]

References

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