1. Congenital Adrenal Hyperplasia (CAH) By: Anna Heideman & Angela Mullins

2. Congenital Adrenal Hyperplasia  CAH refers to a group of disorders characterized by genital abornomalities due to deficiencies of the adrenal gland

3. Adrenal Glands  The adrenal glands are responsible for producing several types of hormones including:  hydrocortisone hormone - this hormone, also known as cortisol, controls the body's use of fats, proteins, and carbohydrates.  corticosterone - this hormone, together with hydrocortisone hormones, suppresses inflammatory reactions in the body and also affects the immune system.  aldosterone hormone - this hormone inhibits the level of sodium excreted into the urine, maintaining blood volume and blood pressure.

4. Adrenal Glands  The adrenal glands also produce epinephrine (known as adrenaline)  This hormone increases the heart rate and force of heart contractions, facilitates blood flow to the muscles and brain, causes relaxation of smooth muscles, helps with conversion of glycogen to glucose in the liver, and other activities.

5. Symptoms Male  Enlarged penis  Failure to regain birth weight  Weight loss  Dehydration  Vomiting  Precocious puberty  Rapid growth during childhood, but shorter than average final height. Female  Ambiguous genitalia  Failure to regain birth weight  Weight loss  Dehydration  Vomiting  Precocious puberty  Rapid growth during childhood, but shorter than average final height.  Infertility  Irregular or absent menstruation  Masculine characteristics

6. Symptoms Young woman with excess hair growth Baby girl with ambiguous genitalia.

7. Causes  Lack of an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.  Without these hormones, the body produces more androgen which is a type of male sex hormone.  This causes male characteristics to appear early or inappropriately.

8. Location of Defective Gene  CAH is caused by mutations of the CYP11B1 gene.  The CYP11B1 gene is found on chromosomes 13 and 18

9. Diagnosis  To diagnose Congenital Adrenal Hyperplasia, doctors look for:  Abnormal salt levels in the blood and urine  High levels of 17-OH progesterone  High levels of serum DHEA sulfate  High levels of urinary 17-ketosteroids  Low levels of aldosterone and cortisol  Normal or low urinary 17-hydroxycorticosteroids  older bones than normal for the person's age

10. Treatment  To treat CAH, children are usually referred to a pediatric endocrinologist.  Oral drugs are prescribed to boost the hormone levels  Hydrocortisone and Dexamethasone are common meds to replace cortisol  Fludrocortisone might be prescribed to replace aldosterone.

11. Treatment  The medication dosage is increased during periods of illness and severe stress.  Most of the medications prescribed for CAH are steroids.

12. Pedigree Chart  CAH is autosomal recessive.  This pedigree chart illustrates a child’s chances of inheriting the condition if both parents are carriers.

13. Pedigree Chart  Simple virilizing 21-hydroxylase deficiency CAH is shaded with diagonal lines, and salt-wasting CAH is black

14. Impact on Patient  The patient has to take medicine for the rest of his/her life. Quitting the medication can result in even bigger problems such as: infertility, tumors, obesity  With the right medication (synthetic corticosterone or cortisol) CAH can be well controled.

15. Impact on Family  Parents must ensure their child sees the right doctors and takes the right medication, but these visits can become costly.

16. Impact on Society  The patients with more severe CAH might not be accepted by society because of their ambiguous genitalia.

17. Bibliography  http://www.pnas.org/content/90/10/4552.abstract  http://content.nejm.org/cgi/content/short/349/8/776  http://www.congenitaladrenalhyperplasia.org/  https://www.google.com/health/ref/Congenital+adrenal +hyperplasia  http://jcem.endojournals.org/cgi/content/full/83/6/1940 http://jcem.endojournals.org/cgi/content/full/83/6/1940  http://www.newbornscreening.info/Parents/othe rdisorders/CAH.html http://www.newbornscreening.info/Parents/othe rdisorders/CAH.html http://www.newbornscreening.info/Parents/othe rdisorders/CAH.html