Since there are many causes of dwarfism, the doctor must find out the cause and make a clear diagnosis before treatment, and then consider how to treat it, only by prescribing the right medicine can we get good results.
The diagnosis of a child with dwarfism relies first on a detailed medical history and physical examination. An experienced pediatric endocrinologist will have an initial impression of the cause based on the history and physical examination, and then select some laboratory or other tests to assist in the diagnosis as needed. The doctor may have the following two considerations as to whether special tests are needed: 1. Children who do not need laboratory tests for the time being: good general condition, normal intelligence, height close to the lowest value of the normal standard (third percentile value), basically normal growth rate, and those who have the following conditions and are in a position to come to the clinic for regular (3-6 months) review; children whose parents are also short or have a history of delayed pubertal growth If the child’s parents are also short or have a history of delayed puberty, or if the child is young and the parents are not eager to have the test done. In these cases, we may not do the test for the time being, and we may follow up the child for six months to one year to observe the growth of height before making a decision.
2, need to do laboratory tests: height below normal standards, the more obvious the dwarf, the more need to do laboratory tests; height growth rate is lower than normal, such as below 4 cm/year, even if the height is now within the normal range, laboratory tests should be done; patients from foreign countries, it is not easy to visit the clinic, not easy to regularly observe height, coupled with the poor medical conditions in the area where the child lives, can not do special laboratory tests. For this kind of children, the conditions of laboratory tests can be relaxed, even if their height is slightly higher than the third percentile, if the parents agree, laboratory tests can be done.
What laboratory and imaging tests do pediatric endocrinologists usually perform on children with dwarfism?
Blood and urine tests, liver and kidney function, calcium, phosphorus and alkaline phosphatase, and x-rays for bone age are usually done. In addition, the following endocrine hormone tests and other tests are done as needed.
1. Thyroid function tests: including thyroxine (T4), triiodothyronine (T3) and thyroid stimulating hormone (TSH). If necessary, free triiodothyronine (FT3), free thyroxine (FT4) and thyroid-related antibodies may be added. To rule out thyroid diseases, such as hypothyroidism, etc.
There are many kinds of drugs used for growth hormone drug stimulation test, such as arginine, levodopa, colistin and insulin hypoglycemia, which are commonly used in clinical practice. Hospitals with conditions can also examine insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3).
3.Blood chromosome test: Except for congenital ovarian hypoplasia, which is also called “Turner syndrome” in short girls, blood should be taken from a vein (without fasting) for chromosome test. However, you should contact the genetic laboratory and send the blood to the laboratory as soon as possible in order to obtain the correct results.
4. Imaging tests: such as CT or MRI of the cranial pterygoid area. In addition, pelvic ultrasound should be done for girls with suspected Turner syndrome.
5. Other special tests related to dwarfism, etc.