Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Congenital adrenal hyperplasias.

¹Department of Pediatrics, University of California, San Francisco.

Endocrinology and Metabolism Clinics of North America

|December 1, 1991

Summary

Congenital adrenal hyperplasias (CAH) are common genetic steroid synthesis disorders. Molecular genetics reveals new insights into CAH, improving understanding of these complex syndromes for endocrinologists.

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

Prevalence of thiamine deficiency in a stable heart failure outpatient cohort on standard loop diuretic therapy.

Clinical nutrition (Edinburgh, Scotland)·2016

Same author

Comparison of Macular Thickness in Patients with Keratoconus and Control Subjects Using the Cirrus HD-OCT.

BioMed research international·2015

Same author

Streptonivicin, a new antibiotic. V. Absorption, distribution, and excretion.

Antibiotics & chemotherapy (Northfield, Ill.)·2014

Same author

Evaluation of mosquito responses to pyrethroid insecticides topically applied to sheep.

Journal of the American Mosquito Control Association·2013

Same author

Analysis of the duplicated human C4/P450c21/X gene cluster.

The Journal of steroid biochemistry and molecular biology·2012

Same author

The regulation of human P450c17 activity: relationship to premature adrenarche, insulin resistance and the polycystic ovary syndrome.

Trends in endocrinology and metabolism: TEM·2008

Area of Science:

Endocrinology
Genetics
Molecular Biology

Background:

Congenital adrenal hyperplasias (CAH) represent a group of common genetic disorders affecting steroid hormone synthesis.
Advances in gene cloning and mutation identification are reshaping traditional understandings of CAH.

Purpose of the Study:

To provide a molecular genetic perspective on the clinical findings of various CAH forms.
To simplify the understanding of complex and related CAH syndromes.

Main Methods:

Cloning of genes encoding steroid biosynthetic enzymes.
Determination of disease-causing mutations in these genes.
Correlation of molecular findings with clinical presentations.

Main Results:

The molecular genetic landscape of CAH is significantly different from previous views.
Specific gene mutations have been identified as causes for different CAH forms.
A molecular genetic approach clarifies the clinical spectrum of CAH.

Conclusions:

Understanding CAH through a molecular genetic lens simplifies complex syndromes.
Increasing recognition of mild CAH forms and improved patient survival impact endocrinology practice.
CAH disorders are relevant to endocrinologists across all age groups.

Related Experiment Videos