I. Choice of timing for consultation
When you find that your child’s height growth is slow or lower than the normal height of children of the same age, or when you find that your child develops secondary sexual characteristics before the age of 8-9, you should choose a regular hospital with a department of pediatric endocrinology, pediatric health care or a specialty in dwarfism and precocious puberty for a systematic endocrine examination.
Collecting medical history: When seeking consultation for dwarfism and precocious puberty, the following information should be provided to the attending doctor in detail
Child’s birth history: time of birth, height/weight at birth, history of hypoxia, twin births, breech position, etc;
The presence of dwarfism at the age of 1 year is important for diagnosis;
The time when the child was found to be short or showed symptoms of premature maturity, and the height growth in the past year;
The child’s diet, sleep, exercise, intelligence, history of hepatitis, nephritis, traumatic brain injury and other special medical history, whether the child has used drugs and health products that affect growth and development, etc;
Parents’ height, history of early or late development and the height of other members of the family;
Any family history of tumor, diabetes, genetic diseases, etc;
Previous medical appointments and related test results and treatment (bring the child’s case and previous test results.
Physical examination
The height and weight of the child should be measured, and the head circumference of the infant should be tested, and evaluated and analyzed according to the standard deviation method or the percentile method.
Auxiliary examination
There are many causes of dwarfism, and in order to treat it, we must find out the cause and make a correct diagnosis, and then consider how to treat it. In order to find out the cause of the disease, we must firstly, through medical history, physical examination, and laboratory examination, analyze and judge the cause of children’s dwarfism based on the detailed information and laboratory results, and finally determine the treatment plan.
1. Bone age.
For children with short stature, first of all, we need to take X-ray pictures (bone age film) of the left wrist metacarpal finger to understand the bone age, determine the growth of the child’s bones, the degree of epiphyseal closure (if the epiphysis is closed, there is no more possibility of treatment) and the growth potential, especially through detailed assessment of bone age and make annual height prediction is very important to know how high the child can grow without treatment in order to know whether treatment is needed or to determine a more reasonable treatment plan (although The actual adult height is often lower than the predicted height, and the predicted height is not accurate when the difference between bone age and age is large, but at least we can know the approximate range, and we can do comparison before and after treatment to evaluate the efficacy).
For children with precocious puberty, first of all, it is also necessary to evaluate the bone age in detail and predict the adult height (at the beginning of precocious puberty, the predicted height is often not low, also because the predicted height can only be predicted according to the normal growth trajectory, and children with precocious puberty are unable to grow according to the normal growth pattern because of the premature puberty onset and the short growth period. However, detailed assessment of bone age and predicted adult height is very important for the selection of treatment plan, and the correct dose adjustment of gonadotropin-releasing hormone analog (GnRHa).
2.Cranial imaging: It is generally necessary to check the magnetic resonance imaging (MRI) or CT of the pituitary gland to rule out the presence of intracranial tumors such as pituitary tumors, pituitary dysplasia, malformation tumors and other factors affecting growth and development, which is helpful in determining the cause and guiding treatment medication.
3. For children with dwarfism and those who need to consider growth hormone therapy, the following tests should be done further
Growth hormone stimulation test: To understand the growth hormone level [growth hormone is secreted at peak level, without stimulation test, it is impossible to know whether the growth hormone is normal or not.
Thyroid function: Growth retardation due to hypothyroidism needs to be excluded.
Insulin-like growth factor 1 (IGF-1), insulin-like growth factor binding protein (IGFBP-3). A recent study showed that growth factor dose adjustment by monitoring IGF levels is more effective than the traditional fixed dose.
Chromosomal screening: girls, especially underdeveloped girls to rule out congenital ovarian hypoplasia (Turner syndrome), and very few boys may also need chromosomal screening. Other special tests related to dwarfism should be recommended by the attending physician.
Others: liver and kidney function, hepatitis B and B half, blood sugar, blood and urine routine
4. Children with precocious puberty also need to have the following further examinations
Ultrasound examination
(1) Breast, uterus, ovary, follicle size: to determine the sexual development of precocious females. For boys, the size of testicles can be checked manually by the doctor.
(2) Ultrasound of adrenal glands: to exclude precocious puberty caused by adrenal cortical hyperplasia or tumors (adrenal glands can also secrete sex hormones)
Sex hormone levels: generally check the six sex hormones, including at least FSH, LH and E2.
Thyroxine level: to exclude precocious puberty caused by hypothyroidism;
Some children with precocious puberty also need to check for alpha-fetoprotein (AFP) and chorionic gonadotropin (HCG) to rule out germ cell tumors, etc.
GnRH stimulation test
For those who are more likely to have true (central) precocious puberty, especially those who need to consider GnRHa treatment, GnRH stimulation test (which can be abbreviated as sex hormone stimulation test) is required to clarify whether it is true precocious puberty, except for a few who have met the criteria of not needing GnRH stimulation test. The treatment of true precocious puberty and pseudoprecocious puberty will not be literally the same. For those who have a high probability of pseudoprematurity, or who are not considering the application of GnRHa treatment for the time being, the GnRH excitation test may not be done for the time being. This is because, if it is shown to be pseudo-precocious after excitation, it does not mean that it will still be pseudo-precocious after a few months and will need to be repeated at a later stage. In order to reduce the child’s pain or unnecessary examination, it may not be done temporarily, but it must be reviewed regularly, as pseudo-precocious puberty has the possibility of turning into true at any time, and the vast majority of them will eventually turn into true, it is just a matter of time, otherwise the child will not be able to develop.
The sex hormone stimulation test is done only for one drug, and blood is collected four times in a day, every 30 minutes, and an indwelling needle can be used to reduce the pain of repeated needle collection.