PMC9637417_01
Clinical findings of the patient; A: Abdominal ultrasonography showing a dysplastic kidney with small cysts on the right (R, arrowheads) and compensatory hypertrophied left kidney (L,
arrowheads). Bars indicate 1 cm. B: An ultrasonographic image of the thyroid showing a hypoplastic thyroid gland. A bar indicates 1 cm. C: Growth chart of the patient showing normal
growth. The solid and dashed lines indicate the mean and +- 2 standard deviations in Japanese children, respectively. D: Daily levothyroxine
requirement per kg body weight of the patient progressively decreased during follow-up. The dashed line and grey area represent the mean and +-2 standard deviations of the levothyroxine
dose required in patients with atherosclerosis, respectively.
cpe-31-250-g001.jpg
PMC9637417_01_cpe-31-250-g001.jpg
fig_001
At 10 mo of age, a detailed abdominal ultrasonography revealed a dysplastic kidney with small cysts (multicystic dysplastic kidney) on the right (length 2.2 cm; reference, 4.7-7.2) and a sonographically normal-appearing left kidney (length 6.3 cm; reference, 4.4-6.7) (Fig. 1A). Thyroid ultrasonography performed on the same day demonstrated a hypoplastic thyroid gland (width -3.4 SD) (Fig. 1B). At her last visit at age 3 yr, her growth and development were normal with 10 microg/d (0.7 microg/kg/d) of levothyroxine (Fig. 1C and D).
Identification of a novel truncating PAX8 variant; a schematic diagram of the PAX8 protein along with electropherograms of the identified variant is shown. The deleted
nucleotides are shown by dashed lines. The black and grey areas represent the DNA-binding paired domain and transactivation domain, respectively. The location of previously described
variants is indicated by black lines (upper, missense variants; lower, truncating variants).
cpe-31-250-g002.jpg
PMC9637417_01_cpe-31-250-g002.jpg
fig_002
Variant screening revealed that the patient was heterozygous for a PAX8 frameshift variant (c.957del, p.Thr320ProfsTer106) (Fig. 2).