Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Congenital adrenal hyperplasia.

M I New, L S Levine

    Monographs on Endocrinology
    |January 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    Enzyme defects in steroidogenesis are typically monogenic. Genetic variations and DNA testing offer future prenatal diagnostic tools for these treatable conditions.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Guest Editor's Foreword.

    Pediatric annals·2014
    Same author

    Idiopathic precocious puberty in girls: Psychosexual development.

    Journal of youth and adolescence·2013
    Same author

    Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.

    Journal of perinatology : official journal of the California Perinatal Association·2012
    Same author

    Pregnancy outcomes in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    Journal of pediatric endocrinology & metabolism : JPEM·2005
    Same author

    Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

    Journal of pediatric endocrinology & metabolism : JPEM·2005
    Same author

    The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.

    Journal of pediatric endocrinology & metabolism : JPEM·2005

    Area of Science:

    • Biochemistry
    • Genetics
    • Endocrinology

    Background:

    • Steroidogenesis enzyme defects are often monogenic disorders.
    • Clinical heterogeneity suggests allelic variations, common in genetic inborn errors.
    • Understanding these genetic variations is key to diagnosis and treatment.

    Purpose of the Study:

    • To explore the genetic basis of steroidogenesis enzyme defects.
    • To discuss the potential for allelic variation studies.
    • To highlight the importance of prenatal diagnosis and early screening.

    Main Methods:

    • Review of existing literature on steroidogenesis enzyme defects.
    • Biochemical and HLA studies for prenatal diagnosis.
    • Exploration of DNA restriction fragment polymorphism for future diagnostics.

    Related Experiment Videos

    Main Results:

    • Steroidogenesis enzyme defects are likely monogenic with potential allelic variations.
    • Prenatal diagnosis is feasible for some defects via biochemical and HLA analysis.
    • DNA polymorphism offers future prenatal diagnostic potential.

    Conclusions:

    • Further gene cloning and sequencing will confirm allelism.
    • Prenatal diagnosis and early screening are crucial for improving patient outcomes.
    • These disorders are compatible with normal intelligence and productive lives, warranting treatment.