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Case Report
Abbreviations
TSH, thyroid-stimulating hormone
2009 by the American Institute of Ultrasound in Medicine J Ultrasound Med 2009; 28:6771 0278-4297/09/$3.50
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Case Report
A 16-year-old female patient, gravida 1, para 0,
was referred to our prenatal diagnosis center at
22 weeks gestation for counseling and targeted sonography because her brother had
DiGeorge syndrome and a congenital heart
defect. Sonography showed a 40 15 22-mm
fetal goiter (Figures 1 and 2) and a mildly
increased quantity of amniotic fluid. The
sonographic findings were otherwise normal.
She had no medical problems and was taking
no medications. Thyroid antibody test results
were negative. There was no family history of thyroid disorders. On the basis of the absence of
maternal thyroid antibodies and the large size of
the fetal thyroid, a presumptive diagnosis of thyroid dyshormonogenesis was made.
Amniocentesis performed at 25 weeks gestation confirmed fetal hypothyroidism (Table 1).
Maternal thyroid study results were normal, and
test results for thyroglobulin antibody, thyroid
peroxidase antibody, thyroid-bindinginhibiting
immunoglobulin, and thyroid-stimulating immunoglobulin were negative. At 26 weeks gestation,
intra-amniotic injections of levothyroxine were
started at a dose of 70 g/kg estimated fetal
weight, given as a weekly injection. This dose
was chosen on the basis of a case report by
Abuhamad et al5 in 1995, in which hypothyroidism was diagnosed on the basis of cordocentesis, and treatment was successfully performed
with weekly intra-amniotic injections of thyroid
hormone. Before each treatment, amniotic fluid
68
was withdrawn and sent to the clinical laboratory at the University of Florida for measurement of
thyroid-stimulating hormone (TSH), free thyroxine, and total thyroxine concentrations in
the amniotic fluid.6,7 Over the subsequent 5
weeks, the amniotic fluid TSH, free thyroxine,
and total thyroxine levels approached normal,
with a slight reduction in goiter size. At the
time of the sixth intra-amniotic injection, the
levothyroxine dose was increased to 15 g/kg/d
(105 g/kg/wk) because the goiter did not
regress as quickly as expected, and the hormone
levels remained outside the normal range.
Subsequently, the goiter regressed in size, and
amniocentesis showed normalization of fetal
thyroid function. A total of 11 intra-amniotic
injections were administered, with the last
injection given at 37 weeks gestation.
At 38 weeks gestation the childs mother went
into active labor after spontaneous rupture of
the membranes. She was delivered of a female
neonate weighing 3012 g with Apgar scores of 9
at 1 minute and 9 at 5 minutes and no evidence
of airway obstruction. On physical examination,
there was a small palpable goiter with obvious
redundancy of skin overlying the gland. Thyroid
function tests performed on the first day of life
showed the neonate to be euthyroid. The
neonate was discharged on the second day of life
with a levothyroxine dose of 37.5 g/d. At 3 weeks
of age, the neonate continued to be euthyroid,
was gaining weight appropriately, and was tolerating the levothyroxine without difficulty.
Figure 2. Transverse view of the fetal neck at 23.9 weeks showing the large goiter (arrows). The spine (Sp) and trachea (Tr) are
also indicated.
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Mayor-Lynn et al
Discussion
Congenital hypothyroidism presenting with thyroid enlargement is very rare (1 per 40,000) and
can be found in only 10% to 15% of all cases of
congenital hypothyroidism.1 Dyshormonogenesis occurs with a frequency of 1 per 30,000
neonates, accounting for approximately 15% of
all hypothyroid neonates. This disorder is caused
by an autosomal recessive mutation in the genes
encoding one or more of the steps in iodothyronine synthesis and secretion.2 Neonatal screening programs for congenital hypothyroidism
were initiated in 1974 and have been successful
in making an early diagnosis and facilitating
treatment within the first few weeks of life.8,9
Although the screen has substantially improved
the outcome for children with a diagnosis of congenital hypothyroidism, there are reports of specific defects in hearing and speech and lower IQ
scores at 5 to 7 years of age in those children who
had evidence of hypothyroidism in utero, severe
chemical hypothyroidism at birth, or a delay in
treatment.5
To avoid these possible adverse neurologic
events, we think that prenatal treatment is indicated when fetal hypothyroidism is diagnosed.
Another potential benefit of treatment is that a
goiter usually shrinks with treatment, avoiding
the complications associated with mechanical
obstruction of the esophagus and trachea.
Additionally, normalization of fetal thyroid hormone levels may be beneficial to the developing
fetal brain.4
The diagnosis of fetal hypothyroidism has traditionally been made with direct measurement
of fetal thyroid function via cordocentesis.
Although this is a well-established method, cordocentesis has a 0.5% to 9% complication rate,
including fetal bleeding, infections, bradycardia,
premature rupture of membranes, and fetal
death, even when the procedure is performed by
experts.1012 When complications occur at a very
early gestational age, emergency delivery may
result in severe iatrogenic prematurity. Given
these concerns and the very high likelihood that
the goiter was caused by dyshormonogenesis, we
thought that presumptive treatment, with confirmation by amniotic fluid thyroid function tests,
carried the least chance of serious morbidity.
J Ultrasound Med 2009; 28:6771
TSH, mIU/La
3.74
3.4
3.09
1.98
1.42
1
0.74
0.39
0.23
0.24
0.20
0.13
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References
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2.
Setian N. Hypothyroidism in children: diagnosis and treatment. J Pediatria (Rio J) 2007; 83(suppl):S209S216.
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5.
Abuhamad AZ, Fisher A, Warsof SL, et al. Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case
report and review of the literature. Ultrasound Obstet
Gynecol 1995; 6:368371.
6.
Singh PK, Parvin CA, Gronowski AM. Establishment of reference intervals for markers of fetal thyroid status in amniotic
fluid. J Clin Endocrinol Metab 2003; 88:41754179.
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Liao C, Wei J, Li Q, Li L, Li J, Li D. Efficacy and safety of cordocentesis for prenatal diagnosis. Int J Gynaecol Obstet
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Nath CA, Oyelese Y, Yeo L, et al. Three-dimensional sonography in the evaluation and management of fetal goiter.
Ultrasound Obstet Gynecol 2005; 25:312314.
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