Congenital adrenal hyperplasia

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 * Associate Editor-In-Chief:

Classification
Types of CAH | Genetics | Biochemistry

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
 * |National 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

Adrenogenitales Syndrom Hiperplasia suprarrenal congénita Iperplasia surrenale congenita Adrenogenitaal syndroom