Neonatal Med.  2019 May;26(2):111-116. 10.5385/nm.2019.26.2.111.

Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation

• Bae JY
• Kim DY
• Kwon YD
• Song YH
• Lim HH
• Park HD
• Lim JW

• KMID: 2451609
• DOI: http://doi.org/10.5385/nm.2019.26.2.111

Abstract

Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH or in premature infants, and its clinical presentation varies. In our case, a premature infant with no family history of thyroid diseases had a thyroid stimulating hormone level of 85.0 µIU/mL and free thyroxine level of 1.64 ng/dL on a thyroid function test. The patient also presented with clinical signs of hypothyroidism, including difficulties in feeding and weight gain. The patient was treated with levothyroxine; however, only free thyroxine and triiodothyronine levels increased without a decrease in thyroid-stimulating hormone levels. Taken together with thyroid gland hypertrophy observed on a previous ultrasound examination, RTH was suspected and the diagnosis was eventually made based on a genetic test. A de novo mutation in the thyroid hormone receptor β gene in the infant was found that has not been previously reported. Other symptoms included tachycardia and pulmonary hypertension, but gradual improvement in the symptoms was observed after liothyronine administration. This report describes a case involving a premature infant with RTH and a de novo mutation, with no family history of thyroid disease.

Keyword

Thyroid hormone resistance syndrome; Infant, premature; Thyroid hormone receptors beta; Goiter; Triiodothyronine

MeSH Terms

Diagnosis
Goiter
Humans
Hypertension, Pulmonary
Hypertrophy
Hypothyroidism
Infant
Infant, Newborn
Infant, Premature*
Receptors, Thyroid Hormone
Tachycardia
Thyroid Diseases
Thyroid Function Tests
Thyroid Gland*
Thyroid Hormone Receptors beta
Thyroid Hormone Resistance Syndrome*
Thyrotropin
Thyroxine
Triiodothyronine
Ultrasonography
Weight Gain
Receptors, Thyroid Hormone
Thyroid Hormone Receptors beta
Thyrotropin
Thyroxine
Triiodothyronine

Figure

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  Figure 1. Thyroid ultrasonography. Hypertrophy of both thyroid glands (2.3×4.3 cm).

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  Figure 2. Technetium-99m thyroid scan showing homogeneously enlarged thyroid glands with markedly increased activity.

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  Figure 3. Direct sequencing of thyroid hormone receptor beta (THRB) in the patient. A heterozygous mutation (NM_000461.4:c. 1320delG(p.His441Thrfs*2)) was identified in the patient.

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