21-Hydroxylase Deficiency overview

Jump to: navigation, search

21-Hydroxylase Deficiency Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating 21-Hydroxylase 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

Pelvic X Ray

CT

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Social Issues

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

21-Hydroxylase Deficiency overview On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of 21-Hydroxylase Deficiency overview

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on 21-Hydroxylase Deficiency overview

CDC on 21-Hydroxylase Deficiency overview

21-Hydroxylase Deficiency overview in the news

Blogs on 21-Hydroxylase Deficiency overview</small>

Directions to Hospitals Treating 21-Hydroxylase Deficiency

Risk calculators and risk factors for 21-Hydroxylase Deficiency overview

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

Overview

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and "CAH" in most contexts refers to 21-hydroxylase deficiency.

  • Severe 21-hydroxylase deficiency causes salt-wasting CAH, with life-threatening vomiting and dehydration occurring within the first few weeks of life. Severe 21-hydroxylase deficiency is also the most common cause of ambiguous genitalia due to prenatal virilization of genetically female (XX) infants.
  • Moderate 21-hydroxylase deficiency is referred to as simple virilizing CAH; and typically is recognized as causing virilization of prepubertal children.
  • Still milder forms of 21-hydroxylase deficiency are referred to as non-classical CAH and can cause androgen effects and infertility in adolescent and adult women.

References


Linked-in.jpg