17-beta-hydroxysteroid dehydrogenase deficiency
| congenital adrenal hyperplasia due to CYP17A1 deficiencies | |
| OMIM | 264300 |
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| DiseasesDB | 32638 |
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17-beta-hydroxysteroid dehydrogenase deficiency Microchapters |
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Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases |
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17-beta-hydroxysteroid dehydrogenase deficiency On the Web |
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American Roentgen Ray Society Images of 17-beta-hydroxysteroid dehydrogenase deficiency |
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Risk calculators and risk factors for 17-beta-hydroxysteroid dehydrogenase deficiency |
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