For children with dwarfism who visit us, we hope to provide the following medical history and related tests. This will facilitate timely clarification and diagnosis and treatment.
Provide medical history
Whether the parents have any close relatives married, the timing of the parents’ youthful development, and the height of first- and second-degree relatives.
Birth history: to know the fetal growth and any perinatal complications, such as amniotic fluid asphyxia during delivery, obstructed labor, upper forceps, etc.
Past history: chronic diseases (tuberculosis, etc.), medication history, nutritional status, psychosocial and cognitive development, etc.
Parental and child knowledge and concern about dwarfism.
Collection and charting of growth indicators.
Physical examination
Degree of dwarfism and body proportions: arm spacing, BMI, sitting height, upper and lower body length ratio, head circumference (under 4 years).
Examination of genitalia and secondary sexual disorders (e.g. precocious puberty).
Presence of specific facial or physical disorders.
Height evaluation
Tests required
Blood routine, electrolytes, blood calcium, blood phosphorus, alkaline phosphatase, liver function, kidney function (blood sugar), thyroid function.
Bone age determination.
Pituitary magnetic resonance.
Karyotype analysis (girls with unexplained short stature and boys with abnormal reproductive system short stature).
Skeletal system examination (children with suspected abnormal bone development, such as congenital genetic metabolic disease, bone metabolic disease, etc.).
Diagnosis of celiac disease.
Gynecologic ultrasound (for girls in peri-pubertal stage) scrotal inguinal ultrasound (male).
Evaluation of GH-IGF-1 axis function
GH stimulation test (colistin test, exercise, hypoglycemia test).
Measurement of IGF-1 levels.
Evaluation of hypothalamic-pituitary-gonadal axis
GNRH excitation test, LHRH test, sex hormone six (for children with precocious puberty, delayed puberty).
Genetic analysis
If specific genetic abnormalities are suspected (e.g. Noonan syndrome or GH insensitivity syndrome).
SHOX gene analysis.