17-beta-hydroxysteroid dehydrogenase deficiency: Difference between revisions

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__NOTOC__
{{Infobox_Disease |
{{Infobox_Disease |
   Name          = 17-beta-hydroxysteroid dehydrogenase deficiency |
   Name          =  
congenital adrenal hyperplasia due to CYP17A1 deficiencies  |
   Image          = |
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   Caption        = |
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   OMIM          = 264300 |
   OMIM          = 264300 |
   MedlinePlus    = |
   MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
   MeshID        = |
   MeshID        = |
}}
}}
{{SI}}
{{17-beta-hydroxysteroid dehydrogenase deficiency }}
{{GS}}
{{CMG}}; {{AE}}{{Abdulkerim}}


{{SK}} 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


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


'''17-beta-hydroxysteroid dehydrogenase deficiency''' is a rare [[disorder of sexual development]] which can produce impaired [[virilization]] (traditionally termed [[male pseudohermaphroditism]]) of genetically male infants and children and excessive virilization of female adults. It is inherited as an autosomal recessive condition and is one of the few disorders of sexual development that can affect the [[primary sex characteristic|primary]] and/or [[secondary sex characteristic]]s of both [[XX]] and [[XY]] persons.
==[[17-beta-hydroxysteroid dehydrogenase deficiency historical perspective|Historical Perspective]]==


==Etiology==
==[[17-beta-hydroxysteroid dehydrogenase deficiency classification|Classification]]==
[[17-beta-hydroxysteroid dehydrogenase deficiency]] type 3 (17βHSD3) is a disorder in testosterone biosynthesis. As a consequence of this disorder, normal male sexual differentiation in impaired as well as [[virilization]]. In the Netherlands, [[17-beta-hydroxysteroid dehydrogenase deficiency]] is estimated to occur 1:147.000 newborns.<ref>{{cite journal |author=Boehmer A et al |title=17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations |journal=J Clin Endocrinol Metab |volume=84 |issue=12 |pages=4713-21 |year=1999 |pmid=10599740}}</ref>


==Clinical characteristics==
==[[17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology|Pathophysiology]]==
17-beta-hydroxysteroid dehydrogenase deficiency-3 is clinically characterized by either ambiguous external genitalia or complete female external genitalia at birth; as a consequence of impaired male sexual differentiation in 46,XY individuals. Further investigations on ambiguous genitalia will eventually lead to findings of [[intersexuality]]. Severely impaired [[virilization]] (often complete absence of male sexual differentiation) can lead to development of female external genitalia. These females (!) are often discovered when there is absence of menarche (first menstruation) and when they begin to virilize during puberty (slowly become more like a man; deepening of the voice, acne, male musculature etc). At careful examination, testis can often be found in the inguinal channel.


==Biochemistry==
==[[17-beta-hydroxysteroid dehydrogenase deficiency causes|Causes]]==
17-beta-hydroxysteroid dehydrogenase deficiency-3 is biochemically characterized by decreased levels of testosterone and increased levels of androstenedione as a result of the defect in conversion of androstenedione into testosterone. This leads to clinically important higher ratio of androstenedione to testosterone (A'dion/T) (see figure).
[[Image:Test biosynth 17BHSD3.jpg|thumb|left|600px| Biochemical effects of 17β-hydroxysteroid deficiency-3 in testosterone biosynthesis. Typically levels of androstenedione are significantly increased, whilst testosterone levels are decreased, leading to male [[undervirilization]].]]


==Genetics==
==[[17-beta-hydroxysteroid dehydrogenase deficiency differential diagnosis|Differentiating 17-beta-hydroxysteroid dehydrogenase deficiency from other Diseases]]==
17-beta-hydroxysteroid dehydrogenase deficiency-3 is caused by gene mutations found in the [[17BHSD3]] gene. 17-beta-hydroxysteroid dehydrogenase deficiency-3 is an autosomal recessive disorder.
 
==[[17-beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics|Epidemiology and Demographics]]==
 
==[[17-beta-hydroxysteroid dehydrogenase deficiency risk factors|Risk Factors]]==
 
==[[17-beta-hydroxysteroid dehydrogenase deficiency screening|Screening]]==
 
==[[17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
 
==Diagnosis==
[[17-beta-hydroxysteroid dehydrogenase deficiency history and symptoms|History and Symptoms]] | [[17-beta-hydroxysteroid dehydrogenase deficiency physical examination|Physical Examination]] | [[17-beta-hydroxysteroid dehydrogenase deficiency laboratory findings|Laboratory Findings]] | [[17-beta-hydroxysteroid dehydrogenase deficiency molecular_genetic_studies|Molecular Genetic Studies]] | [[17-beta-hydroxysteroid dehydrogenase deficiency genotyping|Genotyping]] | [[17-beta-hydroxysteroid dehydrogenase deficiency pelvic x ray|Pelvic X Ray]] | [[17-beta-hydroxysteroid dehydrogenase deficiency CT|CT]] | [[17-beta-hydroxysteroid dehydrogenase deficiency ultrasound|Ultrasound]] | [[17-beta-hydroxysteroid dehydrogenase deficiency other imaging findings|Other Imaging Findings]] | [[17-beta-hydroxysteroid dehydrogenase deficiency other diagnostic studies|Other Diagnostic Studies]]
 
==Treatment==
[[17-beta-hydroxysteroid dehydrogenase deficiency medical therapy|Medical Therapy]] | [[17-beta-hydroxysteroid dehydrogenase deficiency primary prevention|Primary Prevention]] | [[17-beta-hydroxysteroid dehydrogenase deficiency secondary prevention|Secondary Prevention]] | [[17-beta-hydroxysteroid dehydrogenase deficiency cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] |  [[17-beta-hydroxysteroid dehydrogenase deficiency future or investigational therapies|Future or Investigational Therapies]]
 
==Case Studies==
 
[[17-beta-hydroxysteroid dehydrogenase deficiency case study one|Case #1]]


==References==
<references/>
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Endocrinology]]
[[Category:Endocrinology]]

Latest revision as of 18:13, 9 May 2022

congenital adrenal hyperplasia due to CYP17A1 deficiencies
OMIM 264300
DiseasesDB 32638

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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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