5-alpha-reductase deficiency pathophysiology

5-alpha-reductase deficiency Microchapters
Home
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
Pelvic X Ray
CT
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
5-alpha-reductase deficiency pathophysiology On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of 5-alpha-reductase deficiency pathophysiology All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on 5-alpha-reductase deficiency pathophysiology
CDC on 5-alpha-reductase deficiency pathophysiology
5-alpha-reductase deficiency pathophysiology in the news
Blogs on 5-alpha-reductase deficiency pathophysiology
Directions to Hospitals Treating 5-alpha-reductase deficiency
Risk calculators and risk factors for 5-alpha-reductase deficiency pathophysiology

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

Overview

The 5-alpha reductase enzyme is responsible for converting testosterone to dihydrotestosterone (DHT) which is a more potent form playing major roles in male sexual development. While Testosterone leads the development of internal male genitalia, DHT develops the external male genitalia. Children with 5-alpha reductase deficiency suffers from defective external genitalia and ambiguous genitalia.

Pathophysiology

5-alpha-reductase is an enzyme that converts testosterone to dihydrotestosterone (DHT) in peripheral tissues. 5-alpha-reductase deficiency-2 is biochemically characterized by low to low normal levels of testosterone and decreased levels of 5α-DHT, creating a higher testosterone/DHT ratio.

Biochemical effects of 5-alpha-reductase deficiency-2 in testosterone biosynthesis. Typically levels of testosterone are elevated, while levels of DHT are significantly decreased, leading to male undervirilization.

DHT is a potent androgen, necessary for the development of male external genitalia in utero.