17-beta-hydroxysteroid dehydrogenase deficiency laboratory findings: Difference between revisions

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[[Category:Endocrinology]]
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Latest revision as of 07:49, 20 October 2022

17-beta-hydroxysteroid dehydrogenase deficiency Microchapters

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Patient Information

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

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CT

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgical Therapy

Primary Prevention

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Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

17-beta-hydroxysteroid dehydrogenase deficiency laboratory findings On the Web

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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]

Overview

Increased serum androstenedione and decreased serum testosterone/androstenedione ratios after hCG stimulation. The definitive diagnosis can be made from Genetic testing.

Laboratory findings

References

  1. Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S; et al. (1999). "17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations". J Clin Endocrinol Metab. 84 (12): 4713–21. doi:10.1210/jcem.84.12.6174. PMID 10599740.

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