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Year : 2019  |  Volume : 8  |  Issue : 1  |  Page : 52-54

Prenatal diagnosis of intrauterine fetal goiter a rare case report

Department of Radiodiagnosis and Imageology, Kurnool Medical College and Government General Hospital, Kurnool, Andhra Pradesh, India

Date of Submission08-Jan-2018
Date of Acceptance13-Apr-2019
Date of Web Publication26-Apr-2019

Correspondence Address:
Dr. J Abdul Gafoor
Department of Radiodiagnosis, Kurnool Medical College, Kurnool, Andhra Pradesh - 518 002
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Source of Support: None, Conflict of Interest: None


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The incidence of fetal goiters is rare and can have poor neonatal outcomes due to tracheal and esophageal obstruction. This makes prenatal diagnosis and treatment pertinent. We report a case of a 25-year-old fifth gravida diagnosed with a large solid homogenous bilobed hypervascular mass noted on the anterior of the fetal neck, causing hyperextension of the cervical spine. A Fetal MRI was performed which revealed intermediate to hyper intensity on T2 weighted image, which were consistent with fetal goiter. The fetus was delivered at 38 weeks of gestation, and the intrapartum and postpartum period was uneventful. Postnatal TSH FT3 and FT4 were done which were consistent with hypothyroidism. With appropriate treatment, the size of the thyroid gland was observed to decrease. The neonate was found to be doing well postnatally.

Keywords: Fetal hypothyroidism, Fetal mri, intrauterine fetal goiter

How to cite this article:
Onteddoo JR, Gafoor J A, Pratyusha I, Bhavana N. Prenatal diagnosis of intrauterine fetal goiter a rare case report. J NTR Univ Health Sci 2019;8:52-4

How to cite this URL:
Onteddoo JR, Gafoor J A, Pratyusha I, Bhavana N. Prenatal diagnosis of intrauterine fetal goiter a rare case report. J NTR Univ Health Sci [serial online] 2019 [cited 2020 Apr 5];8:52-4. Available from: http://www.jdrntruhs.org/text.asp?2019/8/1/52/257162

  Introduction Top

Congenital Hypothyroidism has an incidence of 1 in 3000-4000 births worldwide.[1] Thyroid dysgenesis, thyroid dyshormonogenesis, transplacental TSH receptor antibodies, thiourea medications taken by the mother suffering from graves' disease are some of the common reasons for congenital hypothyroidism.

Fetal hypothyroidism causing fetal goiter can lead to polydramnios due to esophageal compression, hyperextension of the neck leading to dystocia during labor and may cause compression of the airway, thereby causing asphyxia.[2]

  Case Report Top

A 25-year-old fifth gravida at 36 weeks' gestation (who had previously been followed up at secondary prenatal care centers) visited our hospital for regular antenatal visit for the first time. She did not mention any abnormalities in her pregnancy history. She had completely normal physical findings and laboratory panels revealed normal routine blood chemistry and normal thyroid function [Table 1] and urine analysis results. However, routine ultrasound examination revealed polyhydramnios and a symmetrical, homogeneous solid mass of size 3 × 6 × 3 cm was identified at the anterior of the fetal neck [Figure 1].
Table 1: Maternal Thyroid Hormone Levels

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Figure 1: (a-c) Are the antenatal ultrasound images of the fetus showing a large bilobed mass of size approx. 3 × 6 × 3 cm in the anterior of the neck of showing increased vascularity with trachea in the midline

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Also, the distal femoral epiphysis was found to be absent with fetal cardiomegaly and pericardial effusion. Subsequently, a fetal MRI with informed consent was performed which revealed intermediate to hyper intensity on T1 and hypo intensity on T2 weighted image, which were consistent with fetal goiter [Figure 2].
Figure 2: (a-d) Showing T 1 Axial (a) and Sagittal (b) images and T2 Sagittal images; (c) and (d) showing bilobed lesion in the anterior of the neck (arrow) with T1 intermediate to hyperintensity and T2 hypointensity suggestive of goiter

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A female child delivered at 38 weeks was found to have a mass lesion on the anterior of the neck slightly towards the right side. Ultrasound imaging of the neonate revealed enlarged bilateral thyroid lobes and isthmus with increased vascularity [Figure 3].
Figure 3: Ultrasound image of diffusely enlarged thyroid gland of neonate soon after delivery

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TSH FT3 and FT4 were done which were found to be consistent with hypothyroidism, thus confirming the diagnosis of goiter [Table 2]. Thyroxine treatment was started and the dosing was adjusted according to monthly TSH levels. The goiter was found to be decreasing gradually in size and the child was doing well. Hence, in the present case, the cause of the goiter is possibly due to dyshormonogenesis.
Table 2: Newborn Thyroid Hormone Levels

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  Discussion Top

Anterior fetal neck masses are rarely encountered in 2nd and 3rd trimesters. Ultrasound screening can reveal intrauterine fetal goiters with anatomical assessment of size and also the compression of neck structures. MR imaging can provide better details in evaluation of the enlarged gland, along with the extent of involvement of airway and other structures in the neck.

Dyshormonogenesis is the primary cause of fetal goiters with blockage of hormone synthesis leading to increased fetal TSH, in turn leading to goiter.[3]

Fetal goiters can lead to neck hyperextension, polyhydramnios and compression of the vascular structures and other structures in the neck with motor and mental retardation at a later stage, making the early diagnosis and appropriate management of fetal goiter important.[3],[4]

Ultrasound score proposed includes fetal heart rate, fetal movements, color Doppler for vascularity and bone maturation. Color Doppler can indicate fetal thyroid function with the pattern of vascularity. Peripheral vascularity suggests non-functioning hypertrophied gland whereas central vascularity suggests overactive hyperfunctioning gland. The most serious complication of hypothyroidism is the mental retardation, which can usually be avoided if the condition is diagnosed early and treated appropriately.[5]

The first in utero treatment of fetal hypothyroidism was successfully conducted in 1980[6] by injecting thyroxine into the amniotic fluid for a fetus exposed to propylthiouracil, administered to a mother suffering from Graves' Disease. Since then, many such attempts have been made which turned out to be successful causing regression in the size of the fetal goiter in utero.

This intrauterine treatment prevents the possibility of premature rupture of membranes and preterm delivery due to polyhydramnios and dystocia in normal labor due to fetal neck hyperextension. Normal intrauterine growth with normal CNS development can be achieved in euthyroid metabolic state. In the present case, the patient was diagnosed at 36 weeks of gestation with no time for in utero management. Hence, the patient was followed up with frequent antenatal visits until spontaneous vaginal delivery in the 38th week.

Other fetal neck swellings include:[7]

Cystic hygroma – thin walled and posterolaterally located.

Encephalocele – posterior thin walled structure with fluid consistency.

Teratoma – anterior or lateral in location with semisolid contents.

Hemangioma – can present anywhere and in any size.

Branchial cleft – anterior cystic structure.

  Conclusion Top

In conclusion, even though rare, congenital hypothyroidism should be considered in the differential diagnosis of fetal neck masses encountered during ultrasound examination. The adverse effects of this condition on fetal mental and motor development should be kept in mind and rapid evaluation, quick diagnosis and immediate treatment should be undertaken.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.


I am sincerely thankful for the support and assistance of my colleagues in department of radiology.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

New England Congenital Hypothyroidism Collaborative. Effects of neonatal screening for hypothyroidism: Prevention of mental retardation by treatment before clinical manifestation. Lancet 1981; 2:1095-8.  Back to cited text no. 1
Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC. Prenatal Diagnosis of Congenital Anomalies. Norwalk, Conn.: Appleton and Lange; 1988. p. 466.  Back to cited text no. 2
Barone CM, Van Natta FC, Kourides IA, Berkowitz RL. Sonographic detection of fetal goiter, an unusual cause of hydramnios. J Ultrasound Med 1985; 4:625-7.  Back to cited text no. 3
Simsek M, Mendilcioglu I, Mihci E, Karagüzel G, Taskin O. Prenatal diagnosis and early treatment of fetal goitrous hypothyroidism and treatment results with two-year follow-up. J Matern Fetal Neonatal Med 2007; 20:263-5.  Back to cited text no. 4
Taff C. Prenatal diagnosis and treatment of fetal goiter. J Diagn Med Sonography 2016; 32:40-4.   Back to cited text no. 5
Weiner S, Scharf JI, Bolognese RJ, Librizzi RJ. Antenatal diagnosis and treatment of a fetal goiter. J Reprod Med 1980; 24:39-42.  Back to cited text no. 6
Güzelmansur I, Aksoy HT, Hakverdi S, Seven M, Dilmen U, Dilmen G. Fetal cervical neuroblastoma: Prenatal diagnosis. Case Rep Med 2011; 2011:529749.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1], [Table 2]


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