17-beta-hydroxysteroid dehydrogenase deficiency: Difference between revisions

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==[[17-beta-hydroxysteroid dehydrogenase 3 deficiency overview|Overview]]==
==[[17-beta-hydroxysteroid dehydrogenase 3 deficiency overview|Overview]]==
17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder that affects male sexual development. It causes reduced production of male sex hormone called testestrone. People with the condition, they are genetically male with has XY chromosomes.


==[[17-beta-hydroxysteroid dehydrogenase deficiency historical perspective|Historical Perspective]]==
==[[17-beta-hydroxysteroid dehydrogenase deficiency historical perspective|Historical Perspective]]==

Revision as of 17:11, 8 January 2022

congenital adrenal hyperplasia due to CYP17A1 deficiencies
OMIM 264300
DiseasesDB 32638

17-beta-hydroxysteroid dehydrogenase deficiency Microchapters

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

Synonyms and keywords: 17-beta hydroxysteroid dehydrogenase III deficiency, 17-ketosteroid reductase deficiency of testis, 17-KSR deficiency, Neutral 17-beta-hydroxysteroid oxidoreductase deficiency, Male Pseudohermaphroditism with gynecomastia, Testosterone 17-beta-dehydrogenase deficiency

Overview

17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder that affects male sexual development. It causes reduced production of male sex hormone called testestrone. People with the condition, they are genetically male with has XY chromosomes.

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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