Fetal euthyroid goiter.
ABSTRACT We present a very unusual case of a baby born with antenatally diagnosed large neck swelling causing compression of trachea on imaging, who was euthyroid. There was no history of any thyroid disease in the mother and no history of exposure to known goitrogens. The goiter gradually reduced in size and baby's thyroid function as well as neurodevelopment remained completely normal during follow-up.
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ABSTRACT: Recent advances in the understanding of the normal process of maturation of fetal thyroid function now make possible the in utero diagnosis of fetal system abnormalities. The approach to the fetus at risk for altered thyroid function is discussed in the context of normal thyroid development and emphasis is given to the fetus presenting with goiter.Clinics in Perinatology 10/1994; 21(3):647-62. · 2.46 Impact Factor
New England Journal of Medicine 03/1991; 324(8):543-6. · 53.30 Impact Factor
Congenital goiter caused by expectorant usage. 2001. J Ped Endo Metab 14 1161-1162..
Correspondence and Reprint requests : Dr Vandana Jain, Assistant
Professor, Division of Pediatric Endocrinology, Department of
Pediatrics, All India Institute of Medical Sciences, New Delhi-
[Received October 3, 2008; Accepted April 9, 2009]
Fetal Euthyroid Goiter
Vandana Jain, Rajni Sharma, Sumit Verma and Ramesh Agarwal
Department of Pediatric Endocrinology, Department of Pediatric, All India Institute of Medical Science, New
We present a very unusual case of a baby born with antenatally diagnosed large neck swelling causing compression of
trachea on imaging, who was euthyroid. There was no history of any thyroid disease in the mother and no history of exposure
to known goitrogens. The goiter gradually reduced in size and baby’s thyroid function as well as neurodevelopment remained
completely normal during follow-up. [Indian J Pediatr 2009; 76 (12) : 1259-1260] E-mail : email@example.com
Key words: Goiter; Congenital; Euthyroid; Autoimmune thyroiditis
neck swelling, soft in consistency with a smooth surface.
There was no clinical evidence of compromise of airway,
heart rate was 130 beats per minute and vitals were stable.
Contrast enhanced computed tomography (CECT) of
the neck showed markedly enlarged thyroid gland
causing tracheal compression
ultrasonography, the thyroid was diffusely enlarged with
no nodularity and mildly increased vascularity. Right lobe
measured 1.6 × 2.1 × 3.3 cm and left lobe 1.6 × 2.2 × 3.2
cm. Baby’s thyroid profile on day 4 was normal with total
T3 of 199 ng/dl (normal 100-300 ng/dl), total T4 10.8 µg/
dl (normal 8.2-16.6), TSH-1.12 mIU/L (normal 0.4-10) and
thyroglobulin 62 ng/ml (normal 2.30-39.6). Urinary iodine
could not be interpreted due to iodinated contrast given
during CECT. Technitium scan showed diffusely enlarged
thyroid with uniform tracer uptake.
(Fig. 1). On
Congenital goiter presenting as antenatally diagnosed
neck mass is rare. It most commonly occurs in neonates
born to mothers with known thyroid disease especially
Graves’ disease. In most cases, the goiter is associated
with hypothyroidism and rarely with hyperthyroidism.
Other causes of congenital goitrous hypothyroidism are
thyroid dyshormonogenesis, endemic iodine deficiency
and maternal goitrogen ingestion or iodine excess
(expectorants, povidone iodine).1,2
Euthyroid congenital goiters are rarely described in
literature. We present a case of euthyroid congenital
goiter possibly attributable to maternal subclinical
REPORT OF CASE
A 30-yr-old woman from Delhi with one previous healthy
child underwent a routine antenatal ultrasound at 36
weeks of gestation. The sonogram revealed a large
uniformly echogenic and highly vascular solid mass
measuring 6.8 × 6.3 × 5.5 cm on the anterior and lateral
aspects of fetal neck. Polyhydramnios, fetal cardiomegaly,
prominent superior and inferior vena cavae and hepatic
veins, hepatomegaly and minimal ascites were also seen.
Fetal growth and heart rate were normal. Diagnostic
possibility of hemangioma in fetal neck with high output
cardiac failure was given by the ultrasonologist.
A female baby with birth weight of 3.25 kg was
delivered vaginally with cephalic presentation without
any complications. The Apgar scores were 8 and 9 at 1
and 5 minutes respectively. The baby had a large anterior
Fig. 1. CECT neck showing diffusely enlarged thyroid with
narrowing of trachea.
Indian Journal of Pediatrics, Volume 76—December, 20091259
Vandana Jain et al
1260 Indian Journal of Pediatrics, Volume 76—December, 2009
The mother had no visible goiter or history suggestive
of thyroid disease or other autoimmune disease. She had
no history of ingestion of goitrogens or anti-thyroid
medication. The family regularly consumed iodised salt.
Mother’s thyroid profile was not done during pregnancy.
When done four days after delivery, it was suggestive of
subclinical hypothyroidism with mildly elevated
antibody titers. Free T4 was 0.88 pg/ml (normal 0.8- 2.3
pg/ml), TSH 8.4 mIU/L (normal 0.5- 6.0 mIU/L), anti-
thyroperoxidase (TPO) antibody titer of 31.78 IU/mL
(normal <20 IU/mL) and antithyroglobulin antibody
titer of 94.7 IU/ml (normal <100 IU/mL). Random
urinary iodine excretion measured twice was normal.
The size of the goiter showed some decrease by day 7
and the baby was discharged. No medication was
started as she was euthyroid and goiter was
asymptomatic. At two months, the baby’s thyroid profile,
growth and development were normal. At 6 months, the
baby’s growth and development are normal. She has a
normal thyroid profile with T4 of 12.71 µg/dl and TSH of
5.47 mIU/L and size of the goiter has decreased visibly as
well as by ultrasonography. The mother’s subclinical
hypothyroidism resolved without treatment and repeat
investigations after six weeks revealed T4 11.81 µg/dl
(normal 5.1-14.1 µg/dL) and TSH 2.98 mIU/L.
Significantly, the titer of anti-TPO antibodies was still
high (36.82 IU/ml). Assays for TSH receptor antibodies
are not routinely available and could not be done.
We have presented a case of congenital goiter
presenting as an antenatally diagnosed large vascular
mass. Antenatal diagnosis of a fetal neck mass is rare.
Differential diagnosis includes thyroid cyst, cystic
hygroma, branchial cleft cyst, hemangioma, cervical
neuroblastoma, teratoma and ectopic thymus.4 Fetal
goiter is most commonly diagnosed in mothers with
known thyroid disease, usually Graves’ disease, other
causes being dyshormonogenesis, iodine deficiency and
maternal exposure to goitrogens or iodide.1,2
In a study by Volumenie et al, out of 12,000 deliveries
over 6 years, 344 women had thyroid disorders and 11
fetuses were detected to have goiters. In the mothers of
these 11 fetuses, Graves’ disease was present in nine and
multinodular goiter with hyperthyroidism in one. In one
fetus, the goiter was secondary to dyshormonogenesis.
Eight of these fetuses had hypothyroidism and three had
When goiter is detected in a fetus, it is essential to
know the functional status of the thyroid. In most cases,
the maternal clinical and laboratory data provide
sufficient clues. In mothers with Graves’ disease on anti-
thyroid medication and
hypothyroidism is likely whereas in mothers not on anti-
absent TSIs, fetal
thyroid medications with positive TSIs, hyperthyroidism
is likely. Ultrasound may show delayed bone maturation
in fetuses with hypothyroidism and tachycardia in
fetuses with hyperthyroidism.1,3,5 Fetal blood sampling is
required to diagnose the thyroid status in case where
mother has no known thyroid disease or has equivocal
laboratory data.1 Large fetal goiters can cause airway
compromise or hyperextension of the fetal neck leading
to dystocia.6 Fetal goiter with hypothyroidism should be
treated with intraamniotic instillation of levothyroxine
propylthiouracil or carbimazole to the mother.3,5,7
by administration of
In our case, the mother had elevated TSH and mildly
raised anti-TPO levels suggesting the possibility of
autoimmune thyroiditis. Several types of antibodies have
been described in autoimmune thyroid disease including
anti-TPO, anti-thyroglobulin, TSH receptor stimulating,
TSH receptor blocking, thyroid growth inhibiting and
thyroid growth stimulating antibodies.8 Unfortunately,
we could not measure any of these antibodies in the
mother except the first two due to constraints of
availability and cost. The baby’s thyroid profile, growth
and development remained normal and thyroid size
decreased on follow up. We postulate that in utero
passage of thyroid growth stimulating antibodies and
their disappearance from the serum in subsequent
months resulted in the resolution of the goiter.
Contributions : VJ, SV and RA were involved in the work-up and
management of the case. VJ and RS are following up the case and
drafted the manuscript. VJ will act as guarantor.
Role of Funding Source : None
Conflict of Interest : None
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Clinical Pediatric Endocrinology Oxford Blackwell scientific