Guidelines for the consultation of children with dwarfism and precocious puberty

  The parents of children with dwarfism and precocious puberty should choose a regular hospital that has a specialty in children’s endocrinology or dwarfism and precocious puberty for a systematic endocrine examination of the child.  Parents of children with dwarfism and precocious puberty need to know the following information before consulting the doctor: ● The mother’s pregnancy and delivery, especially whether the child was born with a history of hypoxia; ● The time when the child was found to be short or had symptoms of precocious puberty, the late progress and the height growth in the past year; ● The time of the child’s birth, the height/weight at birth, especially at 1 week of age The child’s diet, sleep, exercise, intelligence, etc., history of hepatitis, nephritis, traumatic brain injury and other special medical history, and whether the child has used drugs and health care products that affect growth and development; ● Parents’ height, history of early or late development and the height of other members of the family; ● Family history of tumors, diabetes, genetic diseases, etc.; ● Previous medical visits and Relevant test results and treatment, etc. (bring the child’s case and previous test results).  There are many causes of short stature, and 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 need to take a medical history, ask questions about the physical condition, and conduct laboratory tests, and based on the detailed information and laboratory results, we will analyze and determine the cause of the child’s short stature and finally determine the treatment plan.  In particular, it is important to evaluate the age of the bones in detail and make an annual height prediction, so as to know how tall the child can grow without treatment, and 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 make a comparison before and after treatment in order to evaluate the efficacy).  For those who need to consider growth hormone therapy, liver and kidney function, blood glucose, blood count and thyroid hormone, and growth hormone provocation test should also be done to know the growth hormone level [growth hormone is secreted at a peak, and it is impossible to know whether growth hormone is normal without provocation test, and the standard growth hormone provocation test needs to be done separately for two drugs with a total of 8~9 time points (using indwelling needles, not repeatedly sticking needles)], and insulin-like growth factor 1 (IGF-1), and insulin-like growth factor binding protein (IGFBP-3). Chromosomes are also checked in girls, especially in immature girls, to rule out “congenital ovarian hypoplasia (Turner’s syndrome)”, and may be required in a very small number of boys. A magnetic resonance imaging (MRI) or CT of the pituitary gland is usually required to rule out factors such as pituitary tumors that are not suitable for growth hormone application. Other special tests related to dwarfism should be recommended by the attending physician.  For children with precocious puberty, first of all, detailed assessment of bone age and prediction of adult height is also needed (at the beginning of precocious puberty, the predicted height is often not low, but because the predicted height can only be predicted according to the normal growth trajectory, and children with precocious puberty cannot grow according to the normal growth pattern because of early puberty onset and short growth period, without treatment, the predicted height is often significantly lower than the initial height). However, detailed assessment of bone age and prediction of adult height is very important for the selection of treatment plan, and the correct dose adjustment of gonadotropin-releasing hormone analog (GnRHa), and knowing the approximate range of predicted height is beneficial for the selection of a more reasonable treatment plan. Secondly, it is necessary to check sex hormone levels (generally, the six sex hormone tests should include at least FSH, LH and E2), and ultrasound to check breast, uterus, ovaries, follicle size (or testicular size in boys, which can be checked by the doctor), to determine sexual development, and also to check adrenal function or ultrasound (to exclude precocious puberty caused by adrenal cortical hyperplasia or tumors, which can also secrete sex hormones), and Since the pituitary gland is the endocrine center, especially for those who suspect central precocious puberty, magnetic resonance imaging (MRI) of the pituitary gland is required, and some children with precocious puberty also need to check for alpha-fetoprotein (AFP) and chorionic gonadotropin (HCG) to rule out germ cell tumors, etc.  For those who are considered more likely to have true (central) precocious puberty, especially those who need to consider GnRHa treatment, a GnRH stimulation test (which can be abbreviated as a sex hormone stimulation test) is required to clarify whether it is true precocious puberty, except for a few who have met the criteria that do not require a 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 pseudoprecocious puberty 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. To reduce the child’s pain or unnecessary examination, it may not be done for the time being, but it must be reviewed regularly. 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.  For those who need to consider combined growth hormone therapy or those who use growth hormone therapy because their bone age is too large for the application of GnRHa and those who consider growth hormone therapy alone because their bone age is large and their predicted height is not too low and GnRHa alone cannot improve their lifetime height and there is little need for combined therapy, the unchecked part of the required screening items for children with dwarfism should also be checked. In particular, growth hormone stimulation test and IGF, etc. Without knowing the growth hormone level, it is not possible to determine the growth hormone dose more rationally. A recent study has shown that adjusting the growth hormone dose by monitoring the IGF level is more effective than the traditional fixed dose.