NAME:

ID:
COURSE: MED III B
SUBJECT: PEDIATRICS

1) Thyroid disorders consist of a variety of diseases that require different treatment according to the cause. Of
the following, the thyroid disorder that does not require treatment is
A. congenital hypothyroidism
B. endemic cretinism
C. Hashimoto thyroiditis
D. hyperthyroidism
E. congenital thyroxine-binding globulin deficiency

ANS: E) congenital thyroxine-binding globulin deficiency.

It is associated with low serum total T4 concentration, normal TSH, and normal serum free T4. It is a euthyroid
condition and does not require treatment with thyroid hormone because it is merely a binding protein
abnormality. It is commonly X-linked dominant.

The other options aren't apt since other options require treatment whereas only option E is an euthyroid
condition that doesn't require treatment.

(Reference Nelson's essentials of pediatrics 7th edition Page number 598).

2) A 16-year-old female adolescent develops swelling at the anterior aspect of the neck with difficulty of the
swallowing. Examination reveals a firm, nontender diffuse goiter with a pebble like surface. Her mother has had
a thyroid disease in early adulthood. Of the following the most valuable test to confirm the diagnosis is
A. thyroid scan
B. biopsy of the thyroid gland
C. ultrasonography of the thyroid gland
D. thyroid function test
E. serum antithyroid peroxidase

ANS: E) Serum antithyroid peroxidase.

Neither biopsy nor thyroid scan is indicated, although the thyroid scan with reduced uptake may differentiate
hashitoxicosis from Graves' disease.

The other options aren't apt because this patient has Hashimoto's thyroiditis which is an autoimmune condition
and thus measuring the antibodies which is antithyroid peroxidase here is helpful.

(Reference Nelson's essentials of pediatrics 7th edition Page number 599).

3) An adolescent female develops fever, palpitation and disorientation. Examination shows exophthalmos,
goiter, tachycardia and elevated blood pressure. Lab tests reveal elevated T4 and T3 with low TSH. Of the
following the best Initial treatment is
A. beta blockers
B. methimazole
C. propylthiouracil
D. radioiodine 1131
E. thyroidectomy

ANS: A) beta blockers.

Thyroid storm is a rare medical emergency. Treatment includes reducing hyperthermia and administering a beta
blocker to control the tachycardia, hypertension, and autonomic hyperfunction symptoms.

Other options mentioned are used to bring the patient into an euthyroid state however in this patient the
dominance is tachycardia and hypertension which needs to be treated with beta blockers.

(Reference Nelson's essentials of pediatrics 7th edition Page number 601).

4) A 5-day-old male neonate develops poor feeding, irritability and tachycardia; her mother has been developed
hyperthyroidism before pregnancy that was treated by radioiodine. The pregnancy course was unremarkable.
Lab investigations reveal markedly elevation of T4 and T3. Of the following, the most likely diagnosis is
A. congenital hyperthyroidism
B. primary hyperthyroidism
C. secondary hyperthyroidism
D. tertiary hyperthyroidism
E. hyperthyroidism due to radioiodine treatment

ANS: A) congenital hyperthyroidism.

Cure of hyperthyroidism before pregnancy (surgery or radioiodine treatment) limits or curtails T4 production
but not the underlying immune disturbance producing thyroid stimulating immunoglobulin (TSIs) thus the infant
still may be affected, at least transiently.

The patient here has congenital hyperthyroidism not secondary to anything as evident from irritability, poor
feeding and so on.

(Reference Nelson's essentials of pediatrics 7th edition Page number 601).

5) You are examining a 10-month-old male infant during a routine visit; you find that he has wide wrists. He is
still breast fed. X-ray of the wrist joint shows signs of rickets. Of the following, the best reflection of vitamin D
deficiency is
A. serum calcium
B. serum phosphate
C. measurement of parathyroid hormone
D. serum concentration of 1,25-hydroxyvitamin D
E. serum concentration of 25-hydroxyvitamin D

ANS: E) serum concentration of 25-hydroxyvitamin D.

The serum concentration of 25-hydroxyvitamin D is a better reflection of vitamin D sufficiency than the
measurement of 1,25-hydroxyvitamin D.

As a matter of fact the body's vitamin D reserve is measured by 1-25 hydroxy vitamin D and thus other options
aren't applicable.

(Reference Nelson's essentials of pediatrics 7th edition Page number 586).

6) A 12-year-old female adolescent is brought to the emergency room because of irritability, paresthesia, and
seizure-like state after a psychological trauma. She is conscious with tachypnea and carpopedal spasm. Of the
following, the most valuable test is the determination of
A. total serum calcium
B. ionized calcium
C. serum pH
D. serum albumin
E. serum magnesium

ANS: B) ionized calcium.

The fraction of ionized calcium is inversely related to plasma pH; alkalosis (resulting from hyperpnea caused by
anxiety or from hyperventilation related to physical exertion) can precipitate hypocalcemia by lowering ionized
calcium without changing total serum calcium.

Even though total serum calcium can be used but we know that the biologically active form is the ionized
calcium and thus the other options are invalid.

(Reference Nelson's essentials of pediatrics 7th edition Page number 602).

7) Rickets is defined as decreased bone mineralization in growing children. Hypocalcemia may accompany
rickets. Of the following, the condition that causes hypocalcemia rather than rickets is
A. nutritional vitamin D deficiency
B. biliary atresia
C. primary hypoparathyroidism
D. renal failure
E. familial hypophosphatemia

ANS: C) primary hypoparathyroidism.

Primary hypoparathyroidism causes hypocalcemia but does not cause rickets.

Only in primary hyperparathyroidism there is an absence of production of PTh which causes hypocalcemia and
not rickets.

(Reference Nelson's essentials of pediatrics 7th edition Page number 602).

8) You are examining a 5-day-old neonate with ambiguous genitalia; there are no palpable gonads in the
inguinal or genital area; the blood pressure is normal according to the age. Of the following, the next step in the
management of this neonate is
A. pelvic ultrasonography
B. chromosomal study
C. measurement of testosterone level
D. measurement of the plasma concentration of 17-hydroxyprogesterone
E. measurement of adrenocorticotrophic hormone (ACTH)

ANS: A) pelvic ultrasonography.

The first step toward diagnosis is to determine whether the disorder represents virilization of a genetic female
(androgen excess) or underdevelopment of a genetic male (androgen deficiency). Inguinal gonads that are
evident on palpation usually are testes and indicate that incomplete development of a male phenotype has
occurred. Similarly absence of female internal genitalia (detected by ultrasound) implies that mullerian-
inhibiting substance was present and secreted by fetal testes.

(Reference Nelson's essentials of pediatrics 7th edition Page number 607).

9) A 3-week-old neonate develops repeated vomiting and dehydration. Examination reveals ambiguous genitalia
with fusion of the anterior portion of the labioscrotal folds. Ultrasonography reveals presence of uterus, ovaries,
and fallopian tubes. Of the following, the MOST valuable test to establish the diagnosis is
A. plasma concentration of 17-hydroxyprogesterone
B. aldosterone level
C. testosterone level
D. plasma concentration of 11-deoxycortisol
E. plasma concentration of 18-hydroxycorticosterone

ANS: A) plasma concentration of 17-hydroxyprogesterone. Statistically most virilized females have CAH; 90%
of these females have 21-hydroxylase deficiency. The diagnosis is established by measuring the plasma
concentration of 17-hydroxyprogesterone and androstenedione, which typically is hundreds of times above the
normal range.

(Reference Nelson's essentials of pediatrics 7th edition Page number 607).

10) A 6-year-old boy develops precocious puberty; he has acne, pubic and axillary hair, and penile enlargement
with normal testicular size. His blood pressure is elevated. Lab test reveals hypokalemia, and elevated level of
deoxycorticosterone. MRI of the brain is normal. Of the following, the MOST likely enzyme deficiency for this
boy is
A. 11-hydroxylase
B. 17-hydroxylase
C. 18-hydroxylase
D. 18-oxidase
E. 21-hydroxylase

ANS: A) 11-hydroxylase.
 In 11-hydroxylase deficiency, virilization occurs with salt retention, hypokalemia, and hypertension as a result
of the excessive production of deoxycorticosterone, a potent mineralocorticoid. Late-onset CAH is typically
noted years after birth with pseudo precocious puberty rather than ambiguous genitalia.

(Reference Nelson's essentials of pediatrics 7th edition Page number 611).