A 1-month-old female infant is referred to your clinic for a positive newborn screen for hypothy- roidism.

On history, the mother reports she is “a good

baby who sleeps all the time but is a slow eater.” She was jaundiced for the first 2 weeks and stools twice a week. Examination reveals an alert infant
with a large tongue, cool skin, a large umbil- ical hernia, edematous extremities, and hypotonia.

10. The most likely cause of this infant’s condi- tion is which of the following?
(A) maternal ingestion of propylthiouracil

(B) thyroid dysgenesis

(C) iodide transport defects

(D) thyrotropin deficiency

(E) thyrotropin receptor–blocking antibodies

10. (B) Thyroid dysgenesis accounts for 85% of the cases of congenital hypothyroidism. Maternal ingestion of propylthiouracil causes a transi- tory
hypothyroidism, but history should reveal maternal use of this drug. The other causes of congenital hypothyroidism are uncommonly seen. (Behrman, 2319–
2325)
 

11. Which of the following management options should be initiated next?

(A) levothyroxine therapy at a dose of 10–15 mcg/kg/day

(B) thyroid scintiscan at the next available date

(C) neurodevelopmental consultation

(D) radiographs of the legs

(E) confirmation of the state screen findings

with a TSH level

11. (A) When a patient presents with a state screen that is positive and has obvious clinical symptoms of hypothyroidism, initiating thyroxine prior to
confirmation is essential. Therapy initiated prior to 2–4 weeks of life can ensure near-normal intelli- gence. Dosing for infants starts at 10–15 mcg/kg/ day.
Older children require about 4 mcg/kg/day and adults require only 2 mcg/kg/day. A scintis- can to look for ectopic thyroid tissue is helpful. Close
neurodevelopmental follow-up is necessary. Radiography of the distal femur of patients with congenital hypothyroidism frequently reveals absent distal
epiphysis. This finding is occasionally used as a quick indirect screen for hypothyroidism.
 
 

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38. A 35-week-gestation infant is delivered weighing 3.9 kg, with an omphalocele and a large tongue. No other abnormalities are detected. Which of the
following is the most likely diagnosis?
 

(A) congenital hypothyroidism

(B) trisomy 18

(C) trisomy 13

(D) fetal alcohol syndrome

(E) Beckwith-Wiedemann syndrome

(A) congenital hypothyroidism

(B) trisomy 18(C) trisomy 13(D) fetal alcohol syndrome(E) Beckwith-Wiedemann syndrome

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102. Patients with Down syndrome are at increased risk for which of the following?
(A) hyperthyroidism

(B) arthritis of the cervical spine

(C) streak gonads

(D) cardiac malformations

(E) rhabdomyosarcoma

102. (D) Individuals with Down syndrome are at increased risk for a variety of disorders. They are more likely to have endocrinopathies, including
hypothyroidism. Congenital heart disease (most commonly endocardial cushion defects) occurs in almost half of these children. They also have an increased
 likelihood of leukemia, but not solid tumors. Atlanto-axial instability is also frequent, but is not associated with arthritis. Streak gonads are a finding seen in
Turner syndrome. (Behrman, 507–509, 2122)
 

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66. Congenital hypothyroidism should be included in the differential diagnosis of a newborn with which of the following?
(A) coma

(B) prolonged jaundice

(C) pulmonary edema

(D) renal failure

(E) severe anemia

66. (B) Congenital hypothyroidism may be associ- ated with prolonged neonatal hyperbilirubine- mia, either indirect or mixed. The indirect
hyperbilirubinemia is due to impaired hepatic glucuronidation of bilirubin and to enhanced enterohepatic circulation of bilirubin secondary to decreased
intestinal motility. The mechanism of the mixed hyperbilirubinemia is uncertain. Hypothyroidism also can be associated with anemia and impaired renal
function, but these are mild. (Rudolph CD,2065)
 

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74. The most consistent finding in lymphocytic thyroiditis (Hashimoto thyroiditis) is which of the following?
(A) enlargement of the thyroid gland

(B) hyperthyroidism

(C) hypothyroidism

(D) eosinophilia

(E) associated disturbances of the parathyroids

 
74. (A) Lymphocytic thyroiditis (Hashimoto thyroiditis) is an autoimmune disorder and circulating antithyroid antibodies can be demon- strated in most
patients. However, other auto- immune disorders, including diabetes mellitus, adrenal insufficiency, hypoparathyroidism, and pernicious anemia, occur in only a
minority of patients. The thyroid gland is invariably enlarged, often irregularly so. Most patients are euthy- roid, some are hypothyroid, and a few are
hyperthyroid. (Rudolph CD,2070)
 

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85. The most common cause of congenital hypothyroidism is which of the following?
(A) dysgenesis of the thyroid gland

(B) a defect in thyroid synthesis

(C) Hashimoto’s thyroiditis

(D) maternal ingestion of iodides

(E) maternal iodine deficiency

85. (A) Dysgenesis (aplasia, dysplasia, hypopla- sia) of the thyroid gland is the most common cause of congenital hypothyroidism. Inborn metabolic errors of
thyroid synthesis are much less frequent. Maternal ingestion of iodides (as in expectorants) is a recognized cause of neona- tal hypothyroidism but is rare today.
(Rudolph CD, 2066, 2068–2069)
 

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64. You are evaluating a small-for-gestational-age infant for tachycardia. There is no prenatal care history available, but based on the infant’s signs and
symptoms and the obstetrician’s description of the mother you suspect neonatal thyrotoxicosis. Thyrotoxicosis in the first day oflife most likely occurs in an
infant born to a mother with which of the following diagnoses?
(A) with untreated hypothyroidism

(B) with untreated Graves disease

(C) with Graves disease being treated with antithyroid medications(D) with euthyroid goiter

(E) receiving iodides as therapy for chronic bronchitis

 
 

64. (B) Infants born to women with active and untreated Graves disease may be hyperthyroidat birth, presumably as a result of transplacen-tal passage of
thyroid-stimulating antibodies. These antbodies can cause an increase in fetal thyroid hormone production. If the mother is receiving antithyroid medication,
this also crosses the placenta, and the infant may be euthyroid or even hypothyroid at birth. Even ifthe infant is asymptomatic at birth, the anti- bodies may
persist for several weeks so regular screeing of the infant’s thryoid function duringthe first 4–6 weeks of life is indicated. (Brodsky, 310)
 

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84. Prior to the newborn screening program in your state, you are evaluating an infant with a skeletal survey due to concerns of trauma. Which of the
following roentgenographic find- ings in a newborn infant is most suggestive of undiagosed hypothyroidism?
(A) epiphyseal dysgenesis

(B) absence of ossification of the hamate bone

(C) prominent thymic shadow

(D) osteoporosis

(E) cardiomegaly

84. (A) Epiphyseal dysgenesis, the development of multiple foci of ossification, occurs in patients with hypothyroidism that are not treated or are
inadequately treated. The devel- opment of ossification centers is also retarded in hypothyroidism. About 60% of infants with congenital hypothyroidism have
x-ray changes, consisent with delayed osseous development, present at birth. The ossification center of the hamate is not normally present at birth, thus x-ray
examination of the wrist is of no value in the newborn period. Roentgenographic demon- stration of absence of the distal femoral epiphyses in a term infant
would be suggestive of hypothy- roidism. Although cardiomegaly from myxedema of the heart can be seen, there are so many other, much more common
causes of cardiomegaly in the newborn that an enlarged heart would not be suggestive of hypothyroidism. (Behrman, 1876)
 

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27. A term newborn infant has a normal weight but height below the 5th percentile. A large posterior fontanelle is the only other finding. A delayed bone age
is noted on skeletal survey based on the appearance of ossification centers and further testing reveals the diagnosis of con- genital hypothyroidism. In normal
neonates, ossification centers are usually radiographi- cally visible at birth in which of the following sites?
 

(A) patella

(B) lunate (carpal)

(C) proximal tibia

(D) head of the femur

(E) distal tibia

27. (C) Ossification centers usually present at birth include the distal femur and the proximal tibia. Reference standards for bone maturation facil-itate
estimation of bone age. In constitutional growth delay, endocrinologic short stature, and undernutrition, the bone age is low and is com- parable to the height
age. In familial short stature, the bone age is normal (compared to chronological age). The most commonly used standards are those of Gruelich and Pyle, which
require radiographs of the left hand and wrist; knee films are sometimes added for younger children. (Kliegman, 27 71)
 

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69. Your office is notified by the state screening program that a newborn in your practice is pre- sumped positive for hypothyroidism. Which of the following
is true of congenital hypothy- roidism?
(A) Affected infants are usually clinically apparent by the third day of life.

(B) Affected infants have unusually small fontanelles.

(C) Affected infants appear thin.(D) Prolonged hyperbilirubinemia is common.

(E) Affected infants usually have a goiter present at birth.

69. (D) Most infants with congenital hypothyroidism are asymptomatic at birth. Thyroid hormone is critical for normal brain develop- ment, deficiency of
thyroid hormone during the first 2–3 years of life could result in irre- versible brain development. Neonatal screen- ing programs assist the clinician in
identifying these infants after birth, although errors in screening occur. Awareness of the subtle clini- cal signs and symptoms is imperative. The infants may be
edematous, have a large poste- rior fontanelle, have difficulty with feeding, and have a history of prolonged jaundice. (Polin, 102; Brodsky, 308)