Congenital Adrenal

Hyperplasia

Renata O, Steyn F, Nathaly

M, Aileen j

What the disease is

Congenital adrenal hyperplasia is a defect in the

adrenal glands when they lack enzyme.

Two types of CAH

1. Classic also has two forms: salt wasting

(severe) & non-salt wasting (mild).

2. Non-classic

Classic CAH

1. Salt wasting: body has trouble keeping the right

amount of salt. Causes weight loss &

dehydration in the first week of life for

newborns.

2. Non-salt wasting: levels of cortisol are

reduced, no salt wasting. Causes ambiguous

genitalia in female babies and virilization in

both sexes before puberty.

Non-classic CAH

Neither cortisol nor aldosterone is reduced

No salt wasting

Newborn girls usually have no abiguity

The target

Both males and females are an easy target

This disease affects 10,000-15,000 newborns

every year

Severe form affects mainly European

Caucasians

Mild form affects Ashkenazi-Jews

Areas of infection

Affect the adrenal glands mainly

Also affects the reproductive system of both

sexes

Causes

Lack of enzyme needed by the adrenal gland to

make the hormones cortisol and aldosterone.

Cortisol: a steroid hormone of the adrenal

cortex

Aldosterone: hormone produced by the cortex of

the adrenal gland

Female Symptoms

Abnormal menstrual cycles

Deep voice

Early appearance of pubic & armpit hair

Ambiguous genitalia (genitals that look both

male and female)

(picture maybe)

Male Symptoms

Early appearance of pubic & armpit hair

Enlarged penis

Small testes

Early development of male characteristics (e.g.

deep voice, facial hair, etc.)

(picture maybe)

Exams and Tests

Salt levels and urine tests

X-ray for bone age

High levels of serum DHEA sulfate

Dehydroepiandrosterone(DHEA)-sulfate- a

weak male hormone produced in the adrenal

glands in both males & females.

Genetic test also help diagnose, confirm, &

manage the disease.

Treatments

Treated with hormone replacement; generally

replaced with cortef and florinef.

Take a form of cortisol daily (e.g.

dexamethasone, fludrocortisone, or

hydrocortisone)

Citation (idk if the way it’s cited is correct) The hormone foundation’s Patient Guide to

Congenital Adrenal Hyperplasia. (n.d.). http://www.hormone.org/resources/up-adrenal-hyperplasia-patient-guide-083110-2.pdf

Congenital Adrenal Hyperplasia-PubMed Health. National Center for biotechnology Information. http://ncbi.nlm.nih.gov/pubmed/health/

Congenital Adrenal Hyperplasia Medicine plus Medical Encyclopedia. National library of medicine-national institutes of health. http://nlm.nih.gov/medicineplus/encyla

http://www.congenitaladrenalhyperplasia.org/