case_images: PMC8087289_01
case_images: Course of laboratory parameters and treatment over time. The dashed lines indicate age-adjusted reference values.
case_images: fendo-12-665336-g001.jpg
case_images: PMC8087289_01_fendo-12-665336-g001.jpg
case_images: f1
case_images: 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.
case_images: PMC8087289_02
case_images: PMC8087289_03