[Diagnosis
A comprehensive examination must be performed on children with short stature to clarify the causes in order to facilitate treatment.
I. Medical history
The following should be carefully inquired: the pregnancy of the child’s mother; the birth history of the child; the birth length and weight; the growth history; the parents’ youth development and the short stature in the family, etc.
Physical examination
In addition to the routine physical examination, the following items should be measured and recorded correctly.
① Current height and weight measurement values and percentile;
②The annual growth rate of height (at least 3 months of observation);
③Target height measured from the height of the parents;
④BMI value;
⑤ Sexual development staging.
III. Laboratory tests
Blood and urine tests and liver and kidney function tests should be routinely performed; blood gas and electrolyte analysis are recommended for suspected renal tubular toxicity; karyotype analysis is required for girls; to exclude subclinical hypothyroidism, thyroid hormone levels should be routinely tested.
Bone Age (BA) is a good indicator to assess the development of an organism. Bone age is the maturity of bone at each age, and is determined by observing the growth and development of each ossification center on ortho-X-rays of the left wrist, palm and finger bones. The most used methods at home and abroad are the G-P method (Greulich & Pyle) and the TW3 method (Tanner-Whitehouse), and the G-P method is mostly used in our clinic. Under normal circumstances, the difference between bone age and actual age should be between ±1 year, and being too far behind or too far ahead is considered abnormal.
3.Special examination
(1) Indications for special examination
(1) The height is lower than the normal reference value minus 2 SD (or lower than the 3rd percentile);
②Bone age below the actual age of 2 years or more;
③Height growth rate below the 25th percentile (according to bone age), i.e. <7CM/rh for children <2 years old;
(iv) Those with clinical symptoms of endocrine disorders or dysmorphic syndrome;
(5) Those who need pituitary function examination for other reasons.
(2) Growth hormone-insulin-like growth factor-1 axis (GH-IGF-1) function determination The physiological screening tests such as exercise and sleep that were used in the past are rarely used nowadays, and most of them are directly used for drug stimulation tests (see Table 2).
(3) Measurement of insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) The serum concentrations of both increase with age and development, and are related to nutrition and other factors, so each laboratory should establish its own reference data.
(4) IGF-1 production test For children with suspected GH resistance (Laron syndrome), this test can be used to detect GH receptor function.
Method 1: rhGH was injected subcutaneously at 0.075-0.15U/(kg・d) every night for 1 week, and blood samples were collected once before and once on the 5th and 8th day after the injection to determine IGF-1;
Method 2: Subcutaneous rhGH was administered at 0.3 U/(kg・d) every night for 4 days, and blood samples were collected once before and once after the last injection for the determination of IGF-1.
(5) Testing of other endocrine hormones Depending on the clinical manifestations of the child, testing of other hormone choices of the child can be performed as needed
(6) Imaging of hypothalamus and pituitary gland MRI should be performed in children with short stature to exclude the possibility of congenital developmental abnormalities or tumors.
(7) Karyotype analysis Karyotype analysis should be performed in all children suspected of having chromosomal aberrations.
[Differential diagnosis
Based on medical history and physical examination, it is easy to identify short stature caused by malnutrition, psychosomatic family idiopathic short stature, small for gestational age, chronic systemic diseases, etc. The common causes of short stature should be identified, such as chondrodysplasia, hypothyroidism, and delayed somatic puberty. In addition, some syndromes, such as Prader-Willi syndrome, Silver-Russeli syndrome, Noonan syndrome, etc., should be identified.
Treatment
1.Treatment measures for children with short stature depend on their etiology Psychosomatic, renal tubular acidosis and other children will see an increase in their height growth rate after the relevant factors are eliminated, and the protection of daily nutrition and sleep is closely related to normal growth and development.
2.Growth hormone With the accumulation of experience in the clinical application of recombinant human growth hormone (rhGH), the number of diseases approved for treatment with rhGH has gradually increased. Prader-Willi syndrome (2000), small for gestational age (2001), and idiopathic short stature (2003).
Since most children younger than gestational age show catch-up growth in the first 2-3 years of life and can reach a growth curve proportional to their target height, they should be regularly followed up and observed. Generally, GH treatment should be considered at 3 weeks of age if their growth is still lagging. 2003 FDA approved GH for idiopathic short stature, namely.
(i) those with non-GH deficiency of unknown origin;
②Height is below the normal reference value of 2.25 SD or more for children of the same sex and age;
(③) expected to have a lifetime height of -2SDS or less in adulthood.
(1) Dosage form Domestic options include rhGH powder and water, with the latter having a slightly better growth effect.
(2) Dose The dose of growth hormone has a wide range and should be individually adjusted according to the need and the observed efficacy. At present, the commonly used dose in China is 0.1-0.15IU/kg・d, 0.23-0.35mg/kg per week; for children with pubertal development, children with Turner, children younger than fetal age, children with idiopathic short stature and some children with partial growth hormone deficiency, the applied dose is 0.15-0.20IU/(K.d), 0.35-0.46(J.K) per week (Note: WHO labeled growth hormone 1J=30). WHO labeled growth hormone 1J=30U)
(3) Usage: 1 subcutaneous injection every night before bedtime, the usual injection site is the outer and anterior flank of the middle 1/2 of the thigh, and the injection site should be changed each time to avoid the denaturation of subcutaneous tissue due to repetition within a short period of time.
(4) Course of treatment: The course of growth hormone treatment for short stature depends on the need, usually should not be shorter than 1-2 years, too short when the child’s benefit to its lifelong high role.