Congenital Adrenal Hyperplasia Details

Expanded Description

Congenital Adrenal Hyperplasia is a genetic defect of the adrenal glands.

Prevalence

10.0 ( Per 100,000 Population ) [Source]

Causes

Genetic. All forms of CAH are Autosomal Recessive which means that each parent is a contributing carrier of at least one CAH mutation.

Disorder Symptoms

In 21-Hydroxylase Deficiency the most common form of CAH the symptoms are:

Female Infants
Ambiguous Genitalia which may include enlarged clitoris, fused labia, common urogenital sinus.

Dehydration
Failure to Thrive/weight loss
Salt wasting crisis

Male Infants
Hyperpigmentation of Scrotum

Dehydration
Failure to Thrive/weight loss
Salt wasting crisis

Children
Accelerated growth
Early puberty (acne, enlarged penis, breast development, acne, body odour, pubic hair etc)
Hyperpigmentation of skin
Clitoral enlargement (females)
Rugated Labia (females)
Deepening voice (females)

Teenage/Adult
Menstrual disturbances
Acne
Hirsutism
Infertility
Fatigue
Mood disturbances (in untreated persons)

We don't have any symptoms yet.

Diagnosis

Diagnosis

In Infancy can be made via:

NBS (Newborn Screening) where it is available.
Symptomology
* Ambiguous Genitalia
* Shock due to Salt Wasting Crisis
* Blood Tests

In Childhood
Symptomology
Blood Testing

Adulthood
Symptomology
Blood Testing

Diagnostic Tests

For the most common form of CAH (95% of cases), 21-Hydroxylase deficiency, diagnostic tests are:

17-OHP (17- Hydroxyprogesterone)
Cortisol
Androstenedione
Testosterone
DHEA
Plasma Renin
Serum Electrolytes (Sodium and Potassium predominately)
Baseline ACTH

ACTH Stimulation test includes
Baseline and post stimulation: 17-ohp, cortisol, testosterone, androstenedione or DHEA.

We don't have any tests yet.

Disorder Treatments

Oral Corticosteroids such as:
Hydrocortisone
Prednisolone/Prednisone
Dexamethasone

Oral Mineralocorticoid
Fludrocortisone (Florinef)

Sometimes
Anti-androgens such as Spironolactone (Aldactone)
Cyproterone acetate
BCP’s (Birth Control Pills)

Rarely
HGH (Human Growth Hormones)
LHRH Analog

We don't have any treatments yet.

Prognosis

Death in the classical (severe) forms of CAH when – untreated – with corticosteroids.

With good compliance to medication it is expected that a normal life span can be achieved.

Tips for Living with the Disorder

We don't have any tips yet.