20% of cases of short stature insufficient growth due to a rare genetic disease: timely diagnosis is important to improve the quality of life
Short stature is almost always not to worry, but what to expect when going to the pediatrician endocrinologist because there is a suspicion of something wrong? The first step is always clinical evaluation, he explains Mariacarolina Salerno, president of Siedp. We collect data on the family and on gestation, to understand if, for example, thesmoking or alcohol use during pregnancy may be the cause of the failure to grow; the child is measured standing and seated, any asymmetries and disproportions, muscle abnormalities, heart noises are assessed. Then they are prescribed tis biochemical to measure thyroid function e dosing hormones such as IGF-1, which if deficient can indicate growth hormone deficiency; indicators of chronic diseases that prevent the absorption of nutrients, such as celiac disease and Crohn’s disease, must be evaluated, and the presence of tumors or genetic diseases caused by defects of the sex chromosomes, such as Turner syndrome, should be considered; a hand and wrist X-ray can detect skeletal dysplasias. All these pathologies cannot be excluded with a simple medical examination, so these additional tests are needed.
In addition to clinical evaluation, x-rays, and blood and urine tests, some specific genetic testing may be required: insufficient growth due to a rare genetic disease in 20 percent of short stature cases it’s a timely diagnosis fundamental because in some cases there are treatment opportunities that can improve the body development and above all the quality of life of patients. If baby characteristics and lab tests point in the direction of one specific pathology you can evaluate the single gene involvedbut more often a wide-ranging analysis is needed, Salerno observes.
Genetic tests should not be done on all children of short stature, but only if there are clinical abnormalities or an extremely reduced height compared to the average after three years of age: in this case it is very likely that the short stature is the result of a disease. Diagnosing the pathologies that cause short stature essential to be able to intervene: growth hormone therapy, as well as in cases of deficiency of this hormone, indicated and approved to promote growth in Turner syndrome, in children with SHOX gene deficiency, in Noonan syndrome and Prader-Willi syndrome. The hormone can also be administered in children with shortage of stature in chronic renal failure and in infants with low birth weight, to promote recovery growth. Unfortunately, clinical experience and scientific studies show that There is a wide variability of responses to growth hormone therapy, which requires regular injections, mainly because adequate adherence to care is often lacking.
October 16, 2022 (change October 16, 2022 | 18:37)
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