Int J Thyroidol.  2023 May;16(1):128-133. 10.11106/ijt.2023.16.1.128.

Ultrasonographic Development and Progression of a Thyroid Nodule in a Girl with TPO-Mutated Dyshormonogenesis during Levothyroxine Supplementation

• Lee J
• Oh A
• Han HS

• KMID: 2543021
• DOI: http://doi.org/10.11106/ijt.2023.16.1.128

Abstract

Dyshormonogenesis is caused by genetic defects in thyroid hormone synthesis. The most common form is thyroid peroxidase (TPO) deficiency. Clinically variable degree of hypothyroidism and thyroid gland enlargement depend on the severity of the defect. We report 22-year-old female with congenital hypothyroidism (CH) caused by TPO deficiency. Since goitrous CH was diagnosed at 8-year-old, L-thyroxine has been supplemented. Her goiter size was fluctuated according to the compliance on the medication. After 3.5 years of medication, ultrasonography found solid nodule, which was interpreted as nodular hyperplasia pathologically. The nodule size did not change during recent 10 years except peripheral calcification. Genetic analysis using NGS for CH revealed compound heterozygous variants of c.2757del;p.(Met921Trpfs*53) and c.1580G＞T;p.(Trp527Leu) in TPO gene. The first variant inherited from asymptomatic mother is pathogenic frame-shift mutation associated with stop codon, and the second one inherited from her asymptomatic father is predicted as deleterious in bioinformatics software program. From this case, we have observed that nodular change and calcification developed from diffuse enlarged goiter in dyshormonogenetic patient. Early molecular diagnosis of dyshormonogenesis and TSH suppression is important for not developing thyroid nodules in case of childhood euthyroid goiter without thyroid autoantibodies.

Keyword

Congenital hypothyroidism; Thyroid dyshormonogenesis; Thyroid peroxidase; TPO

Figure

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  Fig. 1 Initial thyroid examination at 8.2 years of age, shows diffuse enlargement with increased up-take in the 99mTc scan (left) and diffuse thyroid enlargement with heterogeneous echogenicity in ultrasonography (right).

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  Fig. 2 At 11.6 years of age, an isoechoic solid nodule with a peripheral halo is visible in the right thyroid gland with diffusely enlarged and heterogeneously decreased echogenicity of the entire gland (left). Aspiration biopsy shows a benign follicular lesion favoring nodular hyperplasia (middle and right).

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  Fig. 3 At 22 years of age, a well-defined isoechoic solid nodule with peripheral calcification in the right inferior thyroid can be seen, along with an enlarged thyroid gland with diffuse heterogenous echogenicity and increased vascularity.

Reference

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