Congenital adrenal hyperplasia

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Congenital adrenal hyperplasia
Cortisol
ICD-10	E25.0
ICD-9	255.2
OMIM	201910 201710 202110 201810 202010
DiseasesDB	1854 Template:DiseasesDB2 Template:DiseasesDB2 Template:DiseasesDB2 Template:DiseasesDB2
MedlinePlus	000411
MeSH	D000312

Congenital adrenal hyperplasia main page
Overview
Classification 21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia
Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Diagnosis

History & Symptoms | Physical examination | Lab Tests | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical therapy: 21-Hydroxylase | 11-Hydroxylase

Surgical therapy: Surgery

Prevention: Primary prevention | Secondary prevention

CAH due to 21-hydroxylase deficiency

• Overview

• Genetics, inheritance, and incidence

• Pathophysiology

• Clinical onset:

• Early onset: Virilization of female infants | Salt-wasting crises in infancy

• Childhood onset

• Late onset

• Diagnosis: Newborn screening | Prenatal diagnosis

• Long-term management: Hormone replacement | Stress coverage, crisis prevention, parental education | Reconstructive surgery | Optimizing growth | Optimizing androgen suppression and fertility | Psychosexual development and issues

Related chapters

• Ambiguous genitalia
• Female pseudohermaphroditism
• Adrenal insufficiency

Resources

• CARES Foundation: Congenital Adrenal Research, Education, and Support
• CongenitalAdrenalHyperplasia.org
• Congenital Adrenal Hyperplasia: A Handbook for Parents
• The ABC's of Congenital Adrenal Hyperplasia
• Organization for Rare Disorders (NORD): Adrenal Hyperplasia, Congenital
• Guide to Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency for parents or patients from Johns Hopkins
• A more advanced discussion of 21-hydroxylase deficiency by an eminent researcher of the disease.
• MAGIC Foundation: Family Support, Annual Convention with Families and Medical Experts