17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology

17-beta-hydroxysteroid dehydrogenase deficiency Microchapters
Home
Patient Information
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
X Ray
CT
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgical Therapy
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of 17-beta-hydroxysteroid dehydrogenase 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 17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology
CDC on 17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology
17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology in the news
Blogs on 17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology
Directions to Hospitals Treating 17-beta-hydroxysteroid dehydrogenase deficiency
Risk calculators and risk factors for 17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology

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

Pathophysiology

17-beta-hydroxysteroid dehydrogenase deficiency-3 is biochemically characterized by decreased levels of testosterone and increased levels of androstenedione as a result of the defect in conversion of androstenedione into testosterone. This leads to clinically important higher ratio of androstenedione to testosterone (A'dion/T) (see figure).

Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male undervirilization.

Genetics

17-beta-hydroxysteroid dehydrogenase deficiency-3 is caused by gene mutations found in the 17BHSD3 gene. 17-beta-hydroxysteroid dehydrogenase deficiency-3 is an autosomal recessive disorder.

Phenotype-Gene Relationships

Phenotype	Gene	Locus
17-beta-hydroxysteroid dehydrogenase X deficiency	HSD17B10	Xp11.22