17-beta-hydroxysteroid dehydrogenase deficiency: Difference between revisions

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{{17-beta-hydroxysteroid dehydrogenase 3 deficiency }}
{{17-beta-hydroxysteroid dehydrogenase deficiency }}
{{CMG}}; {{AE}}{{Abdulkerim}}
{{CMG}}; {{AE}}{{Abdulkerim}}


{{SK}} HSD17B10 deficiency; HSD10 deficiency; 3-hydroxyacyl-CoA dehydrogenase II deficiency; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; MHBD deficiency
{{SK}} HSD17B10 deficiency; HSD10 deficiency; 3-hydroxyacyl-CoA dehydrogenase II deficiency; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; MHBD deficiency


==[[17-beta-hydroxysteroid dehydrogenase deficiency overview|Overview]]==
==[[17-beta-hydroxysteroid dehydrogenase 3 deficiency overview|Overview]]==


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

Revision as of 06:09, 6 January 2022

congenital adrenal hyperplasia due to CYP17A1 deficiencies
OMIM 264300
DiseasesDB 32638

17-beta-hydroxysteroid dehydrogenase deficiency Microchapters

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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

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X Ray

CT

Ultrasound

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Case Studies

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: HSD17B10 deficiency; HSD10 deficiency; 3-hydroxyacyl-CoA dehydrogenase II deficiency; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; MHBD 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

Case Studies

Case #1


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