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Related Experiment Videos

17 alpha-Hydroxylase/17,20-lyase defects

T Yanase1

  • 1Third Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

The Journal of Steroid Biochemistry and Molecular Biology
|June 1, 1995
PubMed
Summary
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Genetic defects in the CYP17 gene cause congenital adrenal hyperplasia. Molecular analysis reveals mutations in P450c17 (CYP17) explain patient phenotypes, including sexual development.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting adrenal hormone production.
  • 17 alpha-hydroxylase/17/20-lyase deficiency, a form of CAH, results from mutations in the P450c17 (CYP17) gene.
  • Understanding the molecular basis of CYP17 mutations is crucial for diagnosing and managing CAH.

Purpose of the Study:

  • To identify and characterize mutations in the CYP17 gene associated with 17 alpha-hydroxylase/17/20-lyase deficiency.
  • To correlate specific CYP17 mutations with clinical phenotypes and enzyme activities.
  • To investigate the molecular basis of discordant clinical presentations in CAH patients.

Main Methods:

  • Identification of 18 different mutations in the coding region of the CYP17 gene in 27 individuals with CAH.

Related Experiment Videos

  • Reconstruction of mutant P450c17 cDNA and expression in COS cells.
  • Kinetic characterization of 17 alpha-hydroxylase and 17,20-lyase activities for mutant P450c17 enzymes.

    • Main Results:

    • Molecular bases of 17 alpha-hydroxylase deficiency were identified as complete or partial combined deficiencies of 17 alpha-hydroxylase/17,20-lyase.
    • Elucidation of molecular bases generally explained patient clinical profiles, including external genitalia sexual phenotype.
    • One case initially reported as isolated 17,20-lyase deficiency was found to have partial combined deficiency, later re-diagnosed with 17 alpha-hydroxylase deficiency, suggesting age-dependent factors.

    Conclusions:

    • Mutations in the CYP17 gene are the primary cause of 17 alpha-hydroxylase/17/20-lyase deficiency.
    • Molecular characterization of CYP17 mutations provides insights into CAH pathogenesis and clinical variability.
    • Further research is needed to understand potential age-dependent factors influencing P450c17 activity in CAH.