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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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
17-beta-hydroxysteroid dehydrogenase deficiency is a rare autososmal recessive developmental disorder that affects male sexual development. The synthesis of testestrone is impaired and the levels in the serum is low which disrupts the formation of external male genitalia before birth. The affected individual is genetically male with XY chromosomes with phenotype female or ambigiounal external genitalia, characterized by clitoromegaly, posterior labioscrotal fusion and perineal blind vaginal pouch. Testes are located in inguinal or in the labioscrotal folds. The internal urogenital tract (epididymides, vasa deferentia, seminal vesicles, ejaculatory ducts) is well developed; prostate and Müllerian structures are absent. Although some patients with less severe defects are brought up as males, affected males are usually raised as girls. During puberty, most of the affected individuals develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. All affected people with the disease are infertile.
Historical Perspective
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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