17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
Line 15: Line 15:
[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:needs english review]]

Revision as of 07:49, 20 October 2022

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 molecular genetic studies 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 molecular genetic studies

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 molecular genetic studies

CDC on 17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies

17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies in the news

Blogs on 17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies

Directions to Hospitals Treating 17-beta-hydroxysteroid dehydrogenase deficiency

Risk calculators and risk factors for 17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdulkerim Yassin, M.B.B.S[2]

Overview

17 beta hydroxysteroid dehydrogenase deficiency is inherited in an autosomal recessive pattern.

Molecular genetic studies

  • 17 beta hydroxysteroid dehydrogenase deficiency is inherited in an autosomal recessive pattern.
  • A molecular basis of this condition has been shown to be the result of any of twenty mutations in the HSD17B3 gene, a gene that is expressed predominately in the testes. [1]

References

  1. Mains LM, Vakili B, Lacassie Y, Andersson S, Lindqvist A, Rock JA (2008). "17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite". Fertil Steril. 89 (1): 228.e13–7. doi:10.1016/j.fertnstert.2007.02.048. PMC 2259022. PMID 17509588.

Template:WH Template:WS