The diagnostic criteria for dwarfism usually refers to a height that is lower than the third percentile (P3) or mean minus two standard deviations of normal children of the same region, age and sex.
Testing and diagnosis
1. Bone age: Bone age represents the physiological state of skeletal development of children, and the future expected height (PH) of children can be projected based on bone age. At the same time, according to the relationship between bone age (BA), actual age (CA) and height age (HA), the cause of short stature can be roughly estimated.
Delayed growth during puberty: HA=BA
Growth hormone deficiency and hypothyroidism:HA
Precocious congenital adrenocortical hyperplasia:BA>HA>CA;
Specific and familial dwarfism:HA
Somatic pubertal delay, commonly referred to as late onset, is defined as the absence of pubertal development at age 13 years in girls and 14 years in boys, 95% of whom are boys, with a resident family history. Although the slow growth before puberty development, girls 15, 6 years old, boys 17, 8 years old only began to hair good , but after adulthood, its height completely into normal.
2, thyroid function: late-onset hypothyroidism (hypothyroidism), the age of onset is later. The main manifestation is slow growth, accompanied by typical atypical hypothyroidism symptoms, such as loss of appetite, fear of cold, delayed reaction, poor memory, dry and constipated stools, rough skin, obesity, etc., and delayed bone age. All short children should be screened for thyroid function to rule out the possibility of hypothyroidism.
3.Growth hormone: Blood cannot be drawn randomly to detect growth hormone (GH), but needs to be drawn after certain stimulation. The screening test is an exercise test, and blood must be drawn after 20 minutes of vigorous exercise. If the growth hormone level is lower than normal, a confirmatory test is performed, usually requiring two drug stimulation stimuli. If GH peak >10ug/L is normal; conversely. If it is <5-10ug/L, it is a partial deficiency; if it is <5ug/L, it is a complete deficiency.
Growth hormone deficiency is caused by GH gene defect, pituitary gland dysplasia, or secondary to perinatal injury (such as breech birth), tumor, infection, radiotherapy, trauma, etc., which makes the pituitary gland secrete insufficient growth hormone. If not treated in time, the adult male height is less than 140cm and female height is less than 130cm.
4.Insulin-like growth factor 1 (IGF-1)
The growth-promoting effect of growth hormone is mainly through promoting the synthesis of IGF1 in the liver, which further promotes bone growth. when GH is lacking, IGF-1 decreases; when malnutrition is poor, IGF-1 also decreases; for those who are growth hormone resistant or insensitive, GH is normal, but IGF-1 is very low. Do IGF-1 production test: 4-7 days after GH injection, before and the day after injection, take blood to measure IGF-1, if IHF-1 increases after GH injection. It indicates a response to GH treatment.
5.Cranial MRI
The examination can detect hypothalamus-pituitary tumor or dysplasia and other diseases. If growth hormone treatment is needed, in principle, cranial MRI must be done first to exclude pituitary tumor.
6.Chromosome examination
For girls with special appearance or boys with abnormal sexual development, chromosome pick-up test should be performed to exclude congenital ovarian hypoplasia (Turner syndrome). The so-called special appearance includes low hairline, thick and short neck, webbed neck, skin melanin infatuation, and elbow ectropion.
Delayed puberty, primary amenorrhea, etc. Ultrasound is also clinically valuable for the correct diagnosis of uterine and ovarian dysplasia.
Correct treatment for etiology
Treatment should be directed at the cause with medication and treatment of the primary cause. If there is a nutritional deficiency, the corresponding nutrients should be supplemented; for example, thyroxine for hypothyroidism, growth hormone for growth hormone deficiency, and growth hormone for idiopathic dwarfism and Turner syndrome.
The dose of growth hormone is based on the cause of the disease and age, and is chosen at the discretion of the patient. It is injected subcutaneously every night at bedtime. It can increase the growth rate of the patient, reduce the amount of fat accumulation in the body, and increase muscle tissue and bone density. The younger the patient is, the more effective the treatment will be. GH treatment should be followed up once every three months to measure height and weight, calculate height growth rate, and perform necessary laboratory tests to assess the effectiveness and safety of the treatment.