Summary of tests related to dwarfism diagnosis and treatment

I. Definition of dwarfism Dwarfism is defined as a child whose height is more than 2 standard deviations (-2SD) lower than the mean height of healthy children of the same race, sex and age in a similar environment or below the 3rd percentile. 2. Diagnostic and treatment process of dwarfism 1. (2) Ask the child’s growth rate, the normal growth rate should be more than 5cm per year (3) Ask the parents’ height to calculate the target height (4) Check the child’s development and stage the sexual development (2) Routine examination (1) Routine blood, urine, liver function and kidney function tests (2) Thyroid function tests to exclude hypothyroidism (3) Blood gas and electrolyte analysis for children with suspected glomerular acidosis All the above routine tests can be done together with the blood test when the child does the growth hormone drug stimulation test to avoid multiple blood draws. 3.

②First blood test: laboratory tests – growth hormone 0, thyroid function, IGF-1, IGFBP3, liver and kidney function, blood glucose, blood count.

③After blood collection, we started to take oral colistin at a dose of 4.0ug/kg (maximum dose not exceeding 3 tablets), and after oral administration, we started to take 1ml of blood every half hour marked as: 30 minutes for colistin, 60 minutes for colistin, and 90 minutes for colistin.

After 90 minutes of blood collection, an intravenous drip of arginine was started, which was diluted to a concentration of 10% – 15% according to the amount of 2 ml/kg (maximum 120 ml) and finished within half an hour. The timing starts when the first drop of arginine enters the body, and the half-hourly blood collection is labeled as 30 minutes for arginine, 60 minutes for arginine, 90 minutes for arginine, and 120 minutes for arginine.

⑤ Send all collected blood to the laboratory and just assay the amount of growth hormone in the serum at each time point.

⑥Take the highest value for diagnosis: the highest value ≥ 10ng/ml means growth hormone (GH) is not deficient 5ng/ml < highest value < 10ng/ml is partial GH deficiency the highest value ≤ 5ng/ml is complete GH deficiency. 3) MRI of the head to observe the size of the pituitary gland and exclude the risk of tumor 4) Chromosomal examination If the child is female and has symptoms such as webbed neck, low hairline, elbow ectropion, and many black nevi on the skin, Turner syndrome is considered, and this child needs karyotype examination.