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==[[17-beta-hydroxysteroid dehydrogenase deficiency overview|Overview]]==
==[[17-beta-hydroxysteroid dehydrogenase deficiency overview|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]].


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

Latest revision as of 18:13, 9 May 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

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

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Case #1


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