PMC9297170_01
PMC9297170_02
Clinical course and thyroid hormone change. The gray range in the graph indicates the
respective adult reference values. FT3, free T3; FT4, free T4; US, ultrasonography;
CT, computer tomography; LT4, levothyroxine.
cpe-31-185-g001.jpg
PMC9297170_04_cpe-31-185-g001.jpg
fig_001
After thyroidectomy, the patient received LT4 at 125 mug per day, and the FT3/FT4 ratio decreased (Fig. 1).
Contrast-enhanced computer tomography image of a coronary section of the neck of the
patient at 17-yr-of-age.
cpe-31-185-g002.jpg
PMC9297170_02_cpe-31-185-g002.jpg
fig_002
Shichijo classification) and partially penetrated the mediastinum (Fig. 2). Serum FT4 levels decreased despite normal TSH and high FT3 levels, and a sharp increase in the FT3/FT4 ratio was observed (Fig. 1).
PMC9297170_03
Clinical course and thyroid hormone change. The gray range in the graph indicates the
respective adult reference values. FT3, free T3; FT4, free T4; US, ultrasonography;
CT, computer tomography; LT4, levothyroxine.
cpe-31-185-g001.jpg
PMC9297170_04_cpe-31-185-g001.jpg
fig_001
After thyroidectomy, the patient received LT4 at 125 mug per day, and the FT3/FT4 ratio decreased (Fig. 1).
Variant of the thyroglobulin gene in the patient and his family. Squares and circles
represent males and females, respectively. Filled and half-filled symbols denote
affected and unaffected heterozygous individuals, respectively. Thyroid hormone levels
are shown next to the symbols. FT3, free T3; FT4, free T4; TG, thyroglobulin.
cpe-31-185-g003.jpg
PMC9297170_03_cpe-31-185-g003.jpg
fig_003
Dokkyo Medical University after obtaining informed consent from the patient, parents, and older brother. DNA sequencing identified a novel homozygous missense TG gene variant, NM_003235: c.434G>A [p.Gly145Glu] (Fig. 3).
PMC9297170_04
Clinical course and thyroid hormone change. The gray range in the graph indicates the
respective adult reference values. FT3, free T3; FT4, free T4; US, ultrasonography;
CT, computer tomography; LT4, levothyroxine.
cpe-31-185-g001.jpg
PMC9297170_04_cpe-31-185-g001.jpg
fig_001
After thyroidectomy, the patient received LT4 at 125 mug per day, and the FT3/FT4 ratio decreased (Fig. 1).
Hematoxylin and eosin staining of thyroid tissue.
cpe-31-185-g004.jpg
PMC9297170_04_cpe-31-185-g004.jpg
fig_004
No distinct cellular atypia was noted (Fig. 4).
Digestion of thyroid tissue extracts by Endoglycosidase H (Endo H). Thyroid tissues
were obtained from a patient homozygous for Cys1264Arg TG, our patient, and a patient
with Graves' disease that did not contain a variant in TG cDNA (wild-type). TG,
thyroglobulin; MW, molecular weight marker.
cpe-31-185-g005.jpg
PMC9297170_04_cpe-31-185-g005.jpg
fig_005
The patient's TG in the thyroid tissue was treated with Endo H and compared with wild-type TG and homozygous Cys1264Arg TG (Fig. 5). TG remained as a 330 kDa band, whereas the Cys1264Arg TG and the patient's TG were digested and decreased in size (Fig. 5). This finding suggests that most of the patients' TG samples were the ER-type.