This document provides information about congenital adrenal hyperplasia (CAH), a genetic disorder where the adrenal glands do not produce essential hormones like cortisol properly. It discusses the relevance, signs and symptoms, diagnosis, and treatment of CAH. CAH can range from mild to life-threatening and is treated through hormone replacement and supplements. Proper treatment is necessary for patients to live normal lives, though genetic counseling is recommended for family planning due to the hereditary nature of the condition.

1. CONDITION
CONGENITAL ADRENAL HYPERPLASIA
Waniwa Bisto Amuchilani
Pharmacy Student

2. CONTENTS
 Relevance
 Congenital Adrenal Hyperplasia
 Signs and symptoms
 Predisposing factors
 Diagnosis of CAH
 Treatment
 Conclusion
 References

3. RELEVANCE
 Over the past 3 weeks I met one of the doctors in PMW where I found them
dealing with CAH case, I was interested to know more about this condition,
we discussed it and they provided more information to me. I found it very
important to come and make a presentation about this condition as a means
of providing educational information to pharmacy community
 This condition its rare but when it appears it comes very strongly and deadly

4. CONGENITAL ADRENAL HYPERPLASIA
 A group of genetic disorders in which the 2 adrenal glands do not work
properly, They cannot efficiently produce hormones essential for body
functions, the two most important hormones in this condition are, cortisol
and aldosterone
 It’s a recessive (masked by a dominant trait) genetic disorder, people inherit
one gene that causes this disorders from each of their parents
 Carriers of the trait show no symptoms but when one has double this gene
problems begin to occur.
 People with CAH lack enzyme steroid 21-hydroxylase resulting in low
production of hormone cortisol which helps the body to respond to stress

7. CONGENITAL ADRENAL HYPERPLASIA
CONT…
 Adrenocorticotropic hormone drives the synthesis and secretion of cortisol as
well as androgens from the adrenal gland.
 In CAH due to 21 hydroxylase deficiency, excess of ACTH leads to
overandrogenization.
 CAH is due to the enzymatic defect in the cortisol synthesis pathway, with
subsequent hypocortisolism, ACTH overproduction, accumulation of androgen
precursors, and adrenal gland hyperplasia.

8. Pro-opiomelanocortin (POMC) is chemical synthesized by the adenohypophysis
which is a precursor of circulating melanocyte stimulating hormone (a-MSH),
adrenocorticotropin hormone (ACTH) and other hormones. It is cleaved by
prohormone convertase to yield ACTH and MSH

10. TYPES OF CAH 21-HYDROXYLASE
DEFICIENCY
 CLASSIC CAH: found in infancy or early childhood, most severe type of CAH
1.Salt wasting; adrenal glands do not produce enough cortisol and aldosterone
hence the body is unable to keep right amount of salt and water in the blood.
2.Non-salting wasting; enzyme shortage is less severe and the adrenal glands
make just enough aldosterone but not enough cortisol.
Classic CAH can cause shock, coma and death if not diagnosed and treated early

11. SIGNS AND SYMPTOMS OF CLASSIC CAH
 Female infants; it can be diagnosed at birth because of visible ambiguous
genitalia but still have normal internal female organs
 Male infants; usually appears normal at birth, though he may have an
enlarged penis. If not diagnosed in infancy baby may grow rapidly and show
signs of early puberty.
 If infant not diagnosed and treated appropriately at birth may experience the
following: vomiting, weight loss, dehydration, shock and death.

12.  NON CLASSIC CAH: It is mild and not life threatening, signs and symptoms
might not appear until childhood or adulthood
 Not associated with genital abnormalities at birth and not detected in most
new born screening programs
 LIKELY SIGNS AND SYMPTOMS:
o Early development of armpit and pubic hair
o Rapid growth during childhood
o Can develop severe acne
o Adolescent girls and adult women also may have masculine characteristics
such as facial hair, acne, or deep voice, may experience infrequent or absent
menstrual periods

13. TREATMENT OF BOTH CLASSICAL AND
NON CLASSIC CAH
 Goals for treatment is to help maintain balanced hormone levels and promote
normal growth in children.
 People with classic CAH require glucocorticoids to replace the cortisol that
the body can not make
 The patient especially those with the salt-wasting form, also need medicines
called mineralocorticoids.
 Infants need salt supplements
 Treatment with glucocorticoids at physiological doses is life saving but is not
sufficient to suppress the elevated ACTH levels and androgen overproduction
 For patients with non classical CAH, they may show no symptoms and require
no treatment while others need low dose of glucocorticoids and might not
need life-long treatment.

14. TREATMENT CONT…
 Fludrocortisone
 Meanwhile the patient is on prednisolone 10mg once daily and normal saline
12ml tid

15. PREDISPOSING FACTORS
 A positive family history is the only risk factor for congenital adrenal
hyperplasia

16. DIAGNOSIS OF CAH
 blood test
 Urine test
 Physical examination
 Family history

17. CONCLUSION
 Although CAH can be life threatening, most people with it can lead normal
lives with proper treatment
 Genetic counselling is recommended for parents who have congenital adrenal
hyperplasia and are contemplating starting a family
 It is important to remember that treatment before birth is often
recommended

18. REFERENCES
1. https://www.nadf.us/adrenal-disease/congenital-adrenal hyperplasia-cah/
2. https://www.researchgate.net/net/publication/12460221-congenital-
adrenal-hyperplasia-due to-21-hydroxylase deficiency
3. https://www.ncbi.nlm.nih.gov/pmc/articles/pmc5296294/
4. https://www.your hormones.infor/endocrine-conditions/congenital-adrenal-
hyperplasia/
5. https//:www.mayoclinic.org/diseases-conditions/congenital-adrenal-
hyperplasia/diagnosis-treatment/drc-20355211

19. THANK YOU