Short stature

introduction

Nowadays the term short stature is used due to the negative connotation of the word "short stature". This describes that a person is below the 3rd percentile of the growth rate - i.e. less than 97% of all people in his age group.
Children whose parents are also very young do not fall under this definition. If diseases such as Crohn's disease or celiac disease are still present, this definition can only be applied to a limited extent, as these diseases do not cause growth disorders with adequate treatment.

Read more on the topic: Short stature

causes

One cause is the short stature in the family. Here the parents are either very small themselves or stunted themselves.
Another common cause describes the constitutional short stature. In this case, children are slowed to enter puberty. The growth rate is consequently reduced here. In the course of puberty, however, in most cases they make up for this deficit.

In addition, disorders in the hormonal balance can cause short stature.An underactive thyroid (hypothyroidism) and a deficiency in the body's own growth hormones (GH and STH) are possible here.
But psychological and social burdens on children, such as neglect and abuse on a physical and psychological level, can also limit children's growth.

Disturbances in embryonic development due to alcohol, pollutants and drugs must also be considered. Chromosomal disorders and genetic diseases can also be traced back to embryonic development. Calling a short stature, etc. trisomy 21 (Down syndrome), Ullrich-Turner, Prader-Willi or Noonan syndrome.
Genetic hereditary diseases such as osteogenesis imperfecta (glass bone disease) can also cause short stature.

Read more on the topic: Stunted growth

Concomitant symptoms

The accompanying symptoms depend on the causal reason for the short stature. If there is a familial cause, there are basically no further symptoms.

If there is a developmental delay, i.e. the onset of puberty is delayed, further abnormalities in physical development occur. So shows i.a. later growth of chest, pubic and armpit hair or delayed onset of menstruation in girls. In boys, the voice breaks later and there is a lack of armpit and pubic hair.

On the other hand, if the cause lies in genetic disorders, there are often serious accompanying symptoms. In Ulrich Turner syndrome, the girls show edema of the hands and feet at birth, they do not menstruate and remain infertile (unable to become pregnant) due to a malposition of the ovaries (ovaries) and they show misalignments and deformities Throat, neck and torso.
In Noonan's syndrome, in addition to short stature, there are other symptoms, such as eyes that are far apart (hypertelorism), malformations of the heart and pulmonary vessels, and a slight intellectual deficit.

Read our article about the Pupillary distance

If mothers consumed alcohol during pregnancy, noticeable changes in the facial area (including narrow red lips, low forehead, deviations in the clefts and axes of the eyelids) occur in addition to the short stature.

If there is a glass bone disease (osteogenesis imperfecta), there is an increased risk of bone fractures depending on the type or severity.

Short stature syndrome

A "short stature or short stature syndrome" does not exist. There are various syndromes, that is, combinations of symptoms or phenomena that include short stature. The best-known syndromes are Ulrich Turner syndrome (see description under other symptoms), trisomy 21 , Prader-Willi syndrome or Noonan syndrome, all of these syndromes include short stature as part of their appearance.

The short stature is a less critical symptom of these syndromes; Most of the time, the affected children have other symptoms on a physical and psychological level that put their quality of life and survival at risk more clearly.
Children with Prader-Willi syndrome are small, have weak muscles (muscular hypotension), and have abnormalities on their face and genitals. Furthermore, they suffer from impulse control disorders and, due to an insatiable feeling of hunger, develop obesity from the age of 3 onwards.

Children who have trisomy 21 have facial changes in the eyes, mouth, noses, and ears. Organs are incorrectly designed, and there are limitations in motor skills and intelligence.

diagnosis

Different approaches should be followed for diagnosis, depending on the suspected cause of the disease.
Primarily, the height of the person concerned must be measured. In a next step, the sizes of parents and siblings should be recorded and the mean target size of the children of the parents determined.
Furthermore, the development of puberty may have to be examined and an X-ray examination of the left hand carried out in order to determine the bone age.

Read more on the topic: Stages of puberty

Another part of the diagnosis is the examination of the child for other physical characteristics that suggest a genetic inherited disease. A laboratory test of the blood for various hormones (thyroid, sex, growth hormones), inflammation markers, special markers for metabolic and autoimmune diseases can also be part of the diagnostics in order to be able to find out the cause of the short stature.

treatment

Nowadays, different forms of short stature can 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 for short stature depends heavily on the cause. If there is a familial cause, the substitution (replacement) of growth hormones cannot be used. If the onset of puberty is delayed, the onset of puberty can be accelerated with a low dose of sex hormones.

If the cause is growth hormone deficiency, Ulrich Turner syndrome, or chronic kidney failure, treatment can be given with growth hormone substitution according to a given scheme. In diseases such as a vitamin D deficiency, the administration of the missing hormone (in this case vitamin D) can normalize growth. The same applies to other diseases in which there is malabsorption - i.e. a certain nutrient is not sufficiently absorbed by the body.

Read more on the topic: Vitamin D deficiency

Duration

If a child has a growth hormone deficiency that causes short stature, artificial growth hormones must be administered until the epiphyseal plates of the bones have closed. This means that the therapy is stopped when the body has finished growing in length.

For girls this is often as early as the age of 16 and for boys around the age of 19. If there is a disease with a deficiency of another substance or hormone, it may have to be substituted for the entire life.