Differential diagnosis of short stature and required tests

  As parents’ expectations for their children increase and people’s health concerns increase, many parents are paying more and more attention to their children’s height development, but at the same time pay attention to the irregular consultation but miss the best treatment period that can make their children grow taller. So what should be done for children with short stature?
  There are many causes of short stature, such as genetic factors, endocrine factors, nutritional factors, and psychosocial factors, so the diagnosis and treatment of short stature disease is complicated. First of all, we need to know what is short stature. Short stature means that the child’s height is 2 standard deviations below the normal height of children of the same ethnicity, gender and age, or below the third percentile of the normal child growth curve. This of needs to be determined by a professional growth chart.
  Among the many causes of short stature, the common causes are as follows.
  1. Growth hormone deficiency.
  That is, what was previously known as pituitary dwarfism. The growth hormone and insulin-like growth factor are low in laboratory tests, and a variety of growth hormone stimulation tests cannot be excited, and the bone age is delayed, often more than 2-3 years younger than the actual age.
  However, the child has normal intellectual development and is well-proportioned. Due to fat accumulation caused by growth hormone deficiency, the child is usually fat and has a round face. Since growth hormone is an important hormone that causes bone development, children with growth hormone deficiency are generally short in stature. For the diagnosis of children with growth hormone deficiency, firstly, bone age determination is performed to clarify whether there is a bone age lag, and secondly, growth hormone determination is performed. Since the secretion of growth hormone is pulsatile and only peaks at night before puberty, but the rest of the time the secretion value of growth hormone is low, it is not possible to judge whether a child is growth hormone deficient by the low value of a single growth hormone measurement.
  In outpatient clinics, post-exercise growth hormone measurement can be routinely performed. If the value of post-exercise growth hormone measurement is low, further hospitalization is needed to perform drug growth hormone stimulation test and insulin-like growth factor and insulin-like growth factor binding protein-3 examination to clarify the diagnosis. Meanwhile, some growth hormone deficiencies are caused by hypothalamic-pituitary tumors, pituitary dysplasia, hydrocephalus, central infections, etc. Therefore, it is important for children with growth hormone deficiencies to undergo pituitary MRI.
  In addition, children with growth hormone deficiency caused by the above diseases usually have gonadotropin, thyroid stimulating hormone and adrenocorticotropic hormone deficiency, so children diagnosed with growth hormone deficiency should also have the above hormones measured.
  2. Somatic pubertal growth retardation.
  This condition is a variation of normal development. The child’s weight and height are normal at birth, and the rate of increase is basically normal every year, but the child’s height is gradually lower than that of children of the same age about 2 years before the start of puberty, and it becomes more obvious at puberty. Delayed pubertal growth is manifested by delayed voice, beard and testicular development in boys, and delayed breast development, ovarian development and age of menarche in girls.
  However, once they reach their own pubertal development age, their height will jump significantly, and eventually their height will be normal. Therefore, these patients do not need special treatment with growth hormone, and can be followed up and observed.
  However, because sex hormones have an inducing and stimulating effect on the secretion of growth hormone, some children with delayed puberty have low sex hormones, and the growth hormone excitation test shows partial or complete lack of growth hormone, which makes it impossible to distinguish children with growth hormone deficiency from those with laboratory tests alone. The focus of differentiation should be on medical history and developmental observation.
  First of all, children with growth hormone deficiency often have a history of obstructed labor, asphyxia, and abnormal fetal position, and there is no significant difference in the prevalence of men and women, and the rate of short stature and height increase is significantly lower. In contrast, children with pubertal growth retardation often have a history of growth retardation in both or one of their parents, and it is more common in boys, and the growth rate of height is close to normal. For children with difficulty in identification, they can be treated with sex hormone induction for 3 months and then evaluated for growth hormone. If the child has pubertal growth retardation, growth hormone secretion increases after sex hormone induction.
  3. Idiopathic dwarfism.
  It is a diagnosis that can be made only after excluding the short stature caused by various currently known etiologies. In fact, it is a kind of dwarfism of unknown cause, but the patient has normal growth hormone, normal thyroid function and no delayed puberty.
  4. Hypothyroidism.
  Typical children with hypothyroidism resulting in short stature generally have the performance of backward intellectual development, along with pseudo-obesity, loss of appetite, constipation, etc. However, since thyroid hormone deficiency is not typical in children, many of them have normal early intelligence, etc. Therefore, thyroid function tests should be routinely performed for children with short stature.
  5. Turner syndrome.
  It is a chromosomal disorder that is unique to female children with short stature, manifesting as ovarian hypoplasia, sexual naïveté, webbed neck, low posterior hairline, shield chest, etc. However, due to the different degrees of chromosomal defects, the clinical manifestations are not typical in mild cases, and chromosomal examination can confirm the diagnosis. Therefore, chromosomal examination is necessary for girls with short stature.
  In addition to the common causes mentioned above, there are also intrauterine growth retardation, malnutrition dwarfism, dwarfism caused by chronic liver and kidney diseases, dwarfism caused by psychosocial factors, dwarfism caused by cartilage dysplasia, etc. Therefore, for children with dwarfism, systematic examination should be conducted to firstly assess the degree of dwarfism and growth rate, followed by bone age determination, and then further routine blood and liver and kidney function tests, growth hormone, thyroid hormone, sex hormone, etc. After that, routine blood tests, liver and kidney function tests, growth hormone, thyroid hormone, sex hormone, etc. should be performed, and then pituitary MRI and chromosomal examination should be performed to further determine the cause. After the cause is determined, the treatment plan can be determined.