17-beta-hydroxysteroid dehydrogenase deficiency

congenital adrenal hyperplasia due to CYP17A1 deficiencies
OMIM	264300
DiseasesDB	32638

17-beta-hydroxysteroid dehydrogenase deficiency Microchapters
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Case #1
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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.

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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