Adolescence syndrome
A “short stature or small stature syndrome” does not exist. There are various syndromes, i.e. combinations of symptoms or phenomena, which comprise a short stature. The best known syndromes are the Ulrich Turner syndrome (see description for further symptoms), trisomy 21, Prader Willi syndrome or Noonan syndrome.
All these syndromes include dwarfism as part of their appearance. In these syndromes, dwarfism tends to be a less critical symptom; in most cases, the affected children have other symptoms on a physical and psychological level that pose a greater threat to their quality of life or survival. Children who have Prader-Willi syndrome are small, show a lack of muscular strength (muscular hypotonia), have conspicuous features on the face and genitals.Furthermore, they suffer from impulse control disorders and develop obesity (obesity) from the age of 3 due to an insatiable feeling of hunger. Children who have trisomy 21 show facial changes in the eyes, mouth, noses and ears. Organs are malformed, and motor and intelligence deficits appear.
Diagnosis
For diagnosis, different approaches should be followed depending on the suspected cause of the disease. Primarily a measurement of the height of the affected person must be taken. In a next step, the sizes of parents and siblings should be collected and the mean target height of the parents’ children should be determined.
Furthermore, if necessary, the development of puberty must be examined and an X-ray examination of the left hand must be performed to determine the age of the bones. Also part of the diagnostic procedure is the examination of the child for other physical characteristics that indicate a genetic inherited disease. A laboratory examination of the blood for various hormones (thyroid, sexual, growth hormones), inflammation markers, special markers for metabolic and autoimmune diseases can also be part of the diagnosis in order to be able to determine the cause of dwarfism more precisely.
Treatment
Nowadays, various forms of dwarfism may be treated with growth hormones. However, this does not apply to all forms and must be done by a specialist in the field of pediatric endocrinology (teaching of hormones). The therapy of dwarfism depends strongly on the cause.
If there is a familial cause, it is not possible to work with the substitution (replacement) of growth hormones. If there is a delay in the onset of puberty, the onset of puberty can be accelerated with a low dosage of sex hormones. If the cause is a growth hormone deficiency, an Ulrich Turner syndrome, or chronic renal insufficiency, growth hormone substitution can be used according to prescribed regimens. In diseases such as vitamin D deficiency, normal growth can be achieved by administering the missing hormone (in this case vitamin D). The same applies to other diseases where malabsorption is present – i.e. a certain nutrient is not sufficiently absorbed by the body.
