Lipoid congenital adrenal hyperplasia overview

Lipoid congenital adrenal hyperplasia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Lipoid CAH from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Lipoid congenital adrenal hyperplasia overview On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Lipoid congenital adrenal hyperplasia overview All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Lipoid congenital adrenal hyperplasia overview
CDC on Lipoid congenital adrenal hyperplasia overview
Lipoid congenital adrenal hyperplasia overview in the news
Blogs on Lipoid congenital adrenal hyperplasia overview
Directions to Hospitals Treating Lipoid congenital adrenal hyperplasia
Risk calculators and risk factors for Lipoid congenital adrenal hyperplasia overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Lipoid congenital adrenal hyperplasia is an uncommon form of CAH resulting from defects in the earliest stages of adrenal cortisol synthesis: the transport of cholesterol into the mitochondria of the cells of the adrenal cortex and the conversion to pregnenolone. Lipoid CAH causes mineralocorticoid deficiency in all affected infants and children. XY infants (genetic males) are severely undervirilized and are usually assigned and raised as girls. The adrenals are large and filled with lipid globules derived from cholesterol.