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CAH-High Yield

Total questions: 26

Worksheet time: 19mins

Name
Class
Date
1.

Decreased aldosterone

a)

11 beta hydroxylase

b)

17 alpha hydroxylase

c)

21 hydroxylase

2.

Decreased cortisol

a)

11 beta hydroxylase

b)

17 alpha hydroxylase

c)

21 hydroxylase

3.

Increased mineralocorticoids

a)

11 beta hydroxylase

b)

17 alpha hydroxylase

c)

21 hydroxylase

4.

Increased glucocorticoids

a)

11 beta hydroxylase

b)

17 alpha hydroxylase

c)

21 hydroxylase

5.

Increased sex hormones

a)

11 beta OH

b)

17 alpha OH

c)

21 OH

6.

Decreased BP

a)

11 beta OH

b)

17 alpha OH

c)

21 OH

7.

Increased Na+

a)

11 beta OH

b)

17 alpha OH

c)

21 OH

8.

K+ wasting is seen in which of the following adrenal enzyme deficiencies?

a)

11 beta OH

b)

17 alpha OH

c)

21 OH

9.

Renin will be low in which of the following enzyme deficiencies?

a)

11 beta OH

b)

17 alpha OH

c)

21 OH

10.

Female with ambiguous genitalia and/or postnatal virilization...

a)

11 beta OH

b)

17 alpha OH

c)

21 OH

11.

Male with precocious puberty...

a)

11 beta OH

b)

17 alpha OH

c)

21 OH

12.

17 yo female with amenorrhea, scant pubic hair, and Tanner stage 2...

a)

11 beta OH

b)

17 alpha OH

c)

21 OH

13.

The gene for 21 OH enzyme is located on which chromosome?

(a)  

14.

4 week old boy brought to the PCP for vomiting. Mother notes poor feeding, crying inconsolably, vomits with each feed.

Physical exam reveals a baby with below-birth weight, BP 88/55, HR 180, sunken fontanel, tacky mucous membranes, poorly responsive infant with descended testes and capillary refill of 3-4 seconds.

a)

11 beta OH

b)

17 alpha OH

c)

21 OH

15.

12 yo boy presents to the clinic due to concerns from his mother that "he is growing too fast". Patient is at Tanner stage 4 and is showing male-pattern of hair growth on his body. His mom wants to know if he will be very tall in the future. What is the best answer to give her?

a)

After running some labs I will have a better answer, but chances are he may be extremely tall.

b)

After running some labs I will have a better answer, but chances are he may be shorter than average.

c)

After running some labs I will have a better answer, but chances are he may be of average height.

d)

After running some labs I will have a better answer, but chances are he may become more muscular.

16.

Goal of CAH treatment

a)

Correct cortisol deficiency if present

b)

Correct aldosterone deficiency if present

c)

Regulate androgens to support normal development

d)

Regulate androgens to support psychological wellbeing

17.

Adult males with 21 OH CAH are at risk for which of the following:

a)

Acromegaly/gigantism

b)

Testicular tumors

c)

Infertility

d)

Short adult stature

18.

8 yo Hispanic girl presents for a wellness check-up. She has pubic hair, strong body odor for about 1 year, and mild acne. Neither the patient or mom are sure how long the pubic hair has been present. On her last exam 3 years ago she didn't have any. Mom says she's always been tall despite everyone in her family being relatively short. The rest of her PE is normal and her vitals and blood panels were non-contributory. What do you want to test for next?

a)

11 beta hydroxylase deficiency

b)

17 alpha hydroxylase deficiency

c)

21 hydroxylase deficiency

19.

Neonate signs of CAH

a)

vomiting, diarrhea, hypoglycemia, dehydration, ambiguous genitalia, irritable, and poor feeding

b)

hirsutism, elevated blood pressure, hydrops fetalis

c)

hypertension, high-pitched cry, decreased muscle tone, hyperkalemia

d)

anencephaly, flat-facies, slanted eyes and ears

20.

Which of the option(s) below can be true of GIRLS with severe/full CAH enzyme deficiencies?

a)

Ambiguous genitalia at birth (normal genitalia if mild CAH)

b)

Clitoromegaly with embedded urethra

c)

Precocious pubic, facial, and body hair later in childhood

d)

Tall stature

e)

High blood pressure

21.

Which of the option(s) below can be true of BOYS with severe/full CAH enzyme deficiencies?

a)

Ambiguous genitalia at birth (normal genitalia if mild CAH)

b)

Tall stature

c)

Precocious puberty and phallic enlargement

d)

High blood pressure

22.

Test to determine sex in a baby with ambiguous genitalia

a)

Amniocentesis

b)

Karyotyping

c)

Western Blot

d)

Genetic testing

23.

Treatment for glucocorticoid deficiency in CAH

a)

Life-long estrogen/progesterone combination

b)

Life-long ketoconazole

c)

Life-long hydrocortisone

d)

Life-long chelating agent therapy

24.

Treatment for mineralocorticoid deficiency in CAH

a)

Life-long ketoconazole

b)

Life-long hydrocortisone

c)

Adrenal stimulation with OMM

d)

Adjunct fludrocortisone acetate

25.

Postnatal 21 OH CAH definite diagnosis is done by measuring what on a heel stick of a baby?

a)

Elevated 17 OH progesterone

b)

Elevated aromatase

c)

Elevated DHT

d)

Elevated testosterone, Leydig cells, and LH

26.

Prenatal testing of CAH include:

a)

Karyotyping

b)

Amniocentesis

c)

Genetic testing in mother

d)

Chorionic villi sampling and amniocentesis