PMC8087289_01
Course of laboratory parameters and treatment over time. The dashed lines indicate age-adjusted reference values.
fendo-12-665336-g001.jpg
PMC8087289_01_fendo-12-665336-g001.jpg
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Although serum levels for free thyroxine reached the lower normal range under substitution with approx. 15 microg/kg/d levothyroxine around day 11, TSH normalization was only reached at day 42 after successive increase of levothyroxine to 35 microg/kg/d, administered intravenously and divided into three doses daily ( Figure 1 ). In addition to neonatal diabetes, hypothyroidism, cholestasis and kidney cysts, the boy presented congenital hyporegenerative anemia ( Figure 1 ; Hb at day one: 11.8 g/dl, Hb minimum around day 34: 6.5 g/dl), which has not been reported in individuals with homozygous GLIS3 mutations to date.
PMC8087289_02
PMC8087289_03