Information for children with dwarfism and precocious puberty

  In general, children with dwarfism and precocious puberty should visit a regular hospital with a specialty in pediatric endocrinology or dwarfism and precocious puberty so that systematic endocrine examination can be conducted for the child.  What do parents need to explain to the attending doctor during the consultation for dwarfism and precocious puberty?  1. the pregnancy and delivery of the mother, especially whether the child had a history of hypoxia at birth; 2. the time when the child was found to be short or showed symptoms of precocious puberty, the late progress and the height growth in the past year; 3. the time of the child’s birth, the height/weight at birth, especially whether the child was short at the age of 1 week is of some significance in terms of diagnosis; 4. the child’s diet, sleep, exercise, intelligence, etc., the presence of 5. parents’ height, history of early or late development and height of other members in the family; 6. family history of tumor, diabetes, genetic disease, etc.; 7. previous medical consultations and related test results and treatment (bring the child’s case and previous test results). The results of the tests should be brought along.)  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 take a medical history, ask about the physical condition, and conduct laboratory tests, and based on the detailed information and laboratory results, we will analyze and judge the cause of the child’s dwarfism and finally determine the treatment plan.  For children with short stature, first of all, we need to take an x-ray (bone age film) of the left wrist and metacarpal finger to understand the bone age, determine the bone growth, the degree of epiphyseal closure (if the epiphysis is closed, there is no possibility of treatment) and the growth potential of the child, especially through a detailed assessment of the bone age and make an annual height prediction is very important to know how tall 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 do 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, hepatitis B and half, blood routine, urine routine and thyroid hormone, and growth hormone excitation test should also be done to understand the growth hormone level [growth hormone is secreted at peak, without excitation test, it is impossible to know whether the growth hormone is normal or not, and the standard growth hormone excitation test needs to do the excitation test of two drugs separately for a total of 8~9 time points (using indwelling needles, and not repeated needle sticks)], 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 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, 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, but also 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 the premature puberty onset and the short growth period, so without treatment, the predicted height will often be significantly lower than the initial height). However, a detailed assessment of bone age and prediction of adult height is very important for the selection of a treatment plan, and the correct adjustment of the dose of gonadotropin-releasing hormone analog (GnRHa), and knowing the approximate range of predicted height is helpful 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 As the pituitary gland is the endocrine center, especially for those who suspect central precocious puberty, magnetic resonance imaging (MRI) of the pituitary gland is needed, and some children with precocious puberty also need to check for alpha-fetoprotein (AFP) and chorionic gonadotropin (HCG) to exclude germ cell tumors, etc.  2. For those who consider the possibility of true (central) precocious puberty, especially those who need to consider GnRHa treatment, except for a few who have met the criteria that do not require GnRH excitation test, GnRH excitation test (which can be referred to as sex hormone excitation test) is needed to clarify whether it is true precocious puberty. 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. Because, if the excitation shows pseudosexuality, it doesn’t mean that it is still pseudosexual after a few months, and the excitation needs to be repeated later, in order to reduce the child’s pain or unnecessary examination, it may not be done temporarily, but it must be reviewed regularly, pseudoprecocious puberty has the possibility of turning into true at any time, and the vast majority of them eventually have to turn into true, just the length of time, otherwise the child will not be able to develop.  3. 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 low and GnRHa alone cannot improve their lifetime height and there is little need for combined therapy, the unchecked part of the required examination 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.