Home Diseases Growth Hormone Deficiency: Symptoms, Treatment

Growth Hormone Deficiency: Symptoms, Treatment

by Josephine Andrews
Published: Last Updated on 332 views

Growth hormone deficiency is a rare disease, which mainly leads to physical development disorders. The main symptom in children is reduced growth in length. In adults, other symptoms come to the fore. Patients receive artificial growth hormone injected under the skin. Read more about growth hormone deficiency here.

ICD codes for this disease:

ICD codes are internationally valid codes for medical diagnoses. They can be found, for example, in doctor’s letters or on certificates of incapacity for work.

E23

quick overview

  • Treatment: Injections with genetically engineered artificial growth hormone until growth is complete, possibly even into adulthood
  • Symptoms: In children, especially disturbed growth, possibly disturbed tooth development; poor general condition in adults, fat distribution disorder, susceptibility to cardiovascular diseases
  • Causes and risk factors: A specific cause can only be found in a quarter of cases; congenital or acquired, for example through hereditary factors, tumor of the pituitary gland , consequence of radiation, inflammation, injuries
  • Diagnosis: medical history, body measurement, blood tests for specific hormones , hand x-ray to determine growth, magnetic resonance imaging if necessary
  • Prognosis: Untreated, usually reduced growth, complications possible, with treatment normal growth is possible, in adults with treatment improvement in quality of life

What is growth hormone deficiency?

Growth hormone deficiency is caused by a lack of the hormone somatotropin (STH). It not only functions as a growth hormone, but has many other tasks. For example, it influences bones, muscles, fat , sugar balance and cognitive functions.

Around one in 4,000 to 10,000 children is affected by isolated growth hormone deficiency. Isolated means that there are no further hormone failures. This is the case in most patients with growth hormone deficiency.

Growth hormone deficiency is both congenital and acquired.

somatotropin

Somatotropin is produced in the body by the pituitary gland, the pituitary gland, and is released in spurts, especially during sleep. This release is regulated by a hormone (GHRH) from a superordinate brain region, the hypothalamus .

The release of somatotropin into the blood causes a variety of reactions in the body. Among other things, the liver releases somatomedins, especially the “insulin-like growth factor 1” (IGF-1).

IGF-1 is the actual growth factor. Its release increases protein production, cell proliferation and maturation. IGF-1 also influences fat and carbohydrate metabolism. It promotes fat dissolution in fat cells and weakens the effect of the blood sugar-lowering hormone insulin on the target cells. This increases the blood sugar level. If there is a sufficiently high level of IGF-1 in the blood, this reduces the release of somatotropin.

With a lack of growth hormone, a disturbance is possible at all levels of the control circuit of the somatotropin balance. In addition to production disorders of the individual factors and hormones, disrupted signaling pathways are possible, such as receptors for IGF-1.

Artificial growth hormone

The treatment of growth hormone deficiency has been possible since 1957 – by replacing the missing hormone. The growth hormone used was obtained from the pituitary gland (hypophysis) of the deceased.

Today (since 1985) genetically engineered, artificial somatotropin is used, which doctors administer by injection.

What can be done about growth hormone deficiency?

In order to plan the treatment of patients with growth hormone deficiency, a hospital stay is usually necessary. In a specialized clinic, the doctors adjust the therapy individually.

Doctors treat growth hormone deficiency with regular administration of artificial growth hormone (somatotropin analogues). This therapy is usually started as soon as possible after the diagnosis. The hormone must be injected under the skin (subcutaneously). Since the amount always has to be exact, the patient and, if necessary, the parents are specially trained in administering the medication.

In children, the treating physicians often end the therapy when the growth in length is complete or there is no longer a growth hormone deficiency. In severe cases it is necessary to inject the growth hormone for life.

In adults, permanent treatment is also necessary in some cases.

In addition, the effect of the artificial growth hormone is sometimes very different from patient to patient. The reason for this is, among other things, genetic differences in the growth hormone receptor (so-called polymorphisms).

Doctors now continue treatment with artificial somatotropin even after growth is complete, since the hormone has an effect on many metabolic processes. A positive effect of the treatment on many physical processes in full-grown or adult patients has now been proven.

Side effects are possible, but rare

Treatment with somatotropin analogues in many cases allows children with growth hormone deficiency to achieve normal height. In adult patients, the therapy improves symptoms such as increased fat accumulation on the abdomen, reduced performance and reduced bone density.

In some cases, the hormone treatment has other, sometimes undesirable effects. Local reactions at the puncture site, such as tingling and redness, sometimes occur. Other possible side effects are urinary tract, throat, gastrointestinal or ear infections, headaches, seizures, general pain and bronchial asthma. There is rarely an increase in pressure in the brain . In cancer patients, it is possible that another tumor develops as a result of the growth hormone therapy.

The growth hormone is also of crucial importance for the sugar metabolism and thus the ability of the organism to keep the sugar level constant. If the therapy with artificial growth hormone is poorly adjusted, it is possible that the sugar balance is disturbed or does not return to normal. This may contribute to the development of diabetes mellitus.

Bone density increases with somatotropin therapy. This may worsen an existing scoliosis ( spine that bends sideways) and a condition known as femoral head epiphysiolysis (damage to the head of the thigh bone) may develop.

Overall, significant side effects during therapy with artificial growth hormone are rare. Nevertheless, the doctor should closely review the treatment at least every other month. An important parameter is the IGF-1 concentration in the blood. The therapy is considered to be set correctly if this concentration is in the intended range. Discontinuation of therapy is only considered if the treatment does not show a sufficient effect after one year.

surgery

In some cases of growth hormone deficiency, surgery on the pituitary gland is necessary. This is especially true when brain tumors are responsible for the growth hormone deficiency. Specialists in these interventions are neurosurgeons.

symptoms

The symptoms that a growth hormone deficiency triggers are diverse, since the hormone fulfills different functions. In addition, the symptoms depend on the age at the onset of the disease. The main symptom in minors is stunted growth. In adults with growth hormone deficiency, growth is usually already complete, which is why other symptoms come to the fore.

Growth hormone deficiency in children

The central, but non-specific symptom in children with growth hormone deficiency is reduced height growth. A congenital growth hormone deficiency usually becomes noticeable between the sixth and twelve months of life. However, growth is often still normal up to the second year. The growth disturbance in a growth hormone deficiency usually affects all parts of the body equally (proportionate short stature).

If the growth hormone deficiency is only slight, affected children are slim. A pronounced deficiency, on the other hand, leads to the formation of a relatively thick layer of fat under the skin.

Tooth development is also affected by growth retardation.

Another important symptom, especially in babies, is a very significantly reduced blood sugar level (hypoglycemia). In contrast to other diseases that are associated with low blood sugar levels, however, the weight and height of the child are usually normal at birth with congenital growth hormone deficiency .

Especially in newborns, the permanently low blood sugar level is often the only indication of a growth hormone deficiency. In some cases, however, hyperbilirubinemia occurs. This means an increased amount of bilirubin in the blood. Bilirubin is a breakdown product of hemoglobin (red blood pigment).

In children, a growth hormone deficiency often affects the general condition in such a way that eating and drinking are refused.

Growth hormone deficiency in adults

In adults with growth hormone deficiency, the moderate general condition and bad mood are in the foreground. Performance and quality of life are often reduced as a result. In addition, a redistribution of fat to the abdomen and trunk is noticeable. Muscle mass and bone density decrease. Blood lipid levels and susceptibility to cardiovascular disease are often elevated. However, growth hormone deficiency in adults may also be largely asymptomatic.

Growth hormone is produced in the pituitary gland. It also produces other hormones. Examples are:

  • LH (luteinizing hormone) and FSH (follicle stimulating hormone, important for the functioning of the sexual organs)
  • ACTH (adrenocorticotropic hormone, important for adrenal gland function)
  • ADH (antidiuretic hormone important for kidney function)
  • TSH (thyroid stimulating hormone, important for thyroid function)

If the growth hormone deficiency is due to a general disease of the pituitary gland, the formation of these other hormones is usually impaired – with corresponding symptoms.

Symptoms may indicate the cause of the disease

There are a number of symptoms that, in some cases, give a clue as to what is causing the growth hormone deficiency. These include, for example, the so-called pendulum nystagmus (involuntary swinging back and forth of the eye) and a particularly small penis (micropenis). These two symptoms speak, for example, of a so-called septo-optic dysplasia – a complex neurological disease that affects the pituitary gland and eye nerve.

Causes and risk factors

Growth hormone deficiency is idiopathic in most cases, meaning the cause is unknown. A specific cause can only be determined in around a quarter of cases.

The disease can be congenital or acquired later. Possible causes are, for example, hereditary predisposition, inflammation (such as autoimmune hypophysitis), vascular damage, injuries, tumors or consequences of radiation exposure (e.g. from chemotherapy). Surgical interventions in the sensitive area of ​​the pituitary gland can also trigger a growth hormone deficiency.

Severe psychological stress sometimes affects the sensitive process of growth and development.

In most cases, the growth hormone deficiency occurs in isolation, which means that there are no other hormone disorders.

investigations and diagnosis

Growth retardation in children is often noticed during a medical check-up. During regular check-ups, the doctor measures the child’s weight and height. These values ​​are entered into the so-called growth curve (percentile curve). From this it can be seen whether the growth corresponds to the norm or how far it deviates from it.

However, the causes of reduced growth are very diverse – growth hormone deficiency is just one possible reason. Growth hormone deficiency specialists are primarily endocrinologists. The field of endocrinology deals with the (endocrine) glands of the body.

anamnesis interview

A central role in the diagnosis of growth hormone deficiency is the collection of medical history (anamnesis). To do this, the doctor has extensive discussions with the parents of the child concerned or with the adult patient himself. The aim is to find out the individual, family and social background of the person concerned. The doctor will ask the following questions, among others:

  • What symptoms have you noticed?
  • Have mood, performance or eating and drinking behavior changed noticeably?
  • Are previous illnesses known?
  • How did other family members develop?
  • Are there psychological stresses?

Physical examination

The interview is followed by a physical examination. In the case of children, this includes measuring their height. This measurement must be as accurate as possible. In addition to the absolute values, the growth development can be calculated, which is important for assessing growth retardation. A reliable statement about the growth rate can only be made after longer observations of at least six to twelve months.

By definition, growth is classified as abnormal if the values ​​are below the so-called third length percentile. This means that 70 percent of children of the same age are taller.

The growth of the child can be set even more specifically in relation to the height of the parents and thus to an expected target size. For the “target height” you take the average height of both parents. Add 6.5 centimeters for boys and subtract 6.5 centimeters for girls. With this size, an expected growth curve can be measured. The permissible deviation range is assumed to be 8.5 centimeters up and down.

In addition, proportional and disproportional growth disorders can be distinguished. In the case of a growth hormone deficiency, the growth disturbance is usually proportionate, which means that all parts of the body are affected by the delayed growth.

In older children, the doctor also pays attention to signs of puberty such as the development of the chest and pubic hair as part of the physical examination.

X-ray examination

An X-ray of the left hand is taken to diagnose growth hormone deficiency. With the help of this image, the “bone age” can be determined. Normally it corresponds to the age. This allows the doctor to distinguish between a developmental delay and a growth hormone deficiency. Without evidence of delayed bone growth, growth hormone deficiency is unlikely.

blood test

Using a blood test, the doctor measures routine parameters as well as the concentration of growth hormone somatotropin (STH), IGF binding protein-3 (IGFBP-3) and IGF-I. The blood levels of other hormones that are produced by the pituitary gland, such as growth hormone (mainly ACTH and TSH), and the substances released by them, such as cortisone, are also measured. If the cause of the growth hormone deficiency lies in the pituitary gland, several hormones are often affected. However, the measurement of the control hormone from the hypothalamus, which leads to the release of growth hormone (GHRH), is unreliable.

STH stimulation test

If the blood levels of IGF-1 and IGFB-3 are low and no other cause can be found, growth hormone deficiency may be present. To investigate this suspicion, it is possible to carry out a so-called STH stimulation test. To do this, the doctor injects the fasting patient with a substance that stimulates the pituitary gland to release somatotropin (e.g. glucagon, insulin, arginine, clonidine). A blood sample is then taken several times at intervals, and the doctor analyzes it to see whether and how much growth hormone has been released. 

The minimum value that must be measured to exclude growth hormone deficiency is discussed. A limit of between eight and ten nanograms per milliliter (ng/ml) of blood is usually given. A value below seven ng/ml indicates a growth hormone deficiency. If a sufficiently high concentration of somatotropin is measured, there is no deficiency.

Two conspicuous stimulation tests are required to detect a growth hormone deficiency. But you have to take into account that the test result is influenced by many factors (e.g. sex hormones and obesity). As a result, the comparability between two tests is not always given.

In children, stimulation tests may sometimes not be carried out due to side effects. Newborns and infants should not be stimulated.

Magnetic resonance imaging (MRI)

Magnetic resonance imaging (MRI) is only used in special cases when a growth hormone deficiency is suspected – namely when the doctor suspects the cause of the growth hormone deficiency in the brain, for example in the form of a tumour.

Genetic Studies

Genetic tests may be necessary if genetic damage is suspected as the reason for the growth hormone deficiency. However, the specific mutations discovered so far can only be found in a few cases. However, a number of disease syndromes can be identified with a genetic test.

Course of the disease and prognosis

Untreated growth hormone deficiency causes a child to remain smaller than their peers. In addition, other organ functions are often impaired. Potential complications include cardiovascular disease, osteoporosis, insulin resistance, and cognitive and psychiatric disorders. It is assumed that life expectancy is reduced without therapy.

If growth hormone deficiency in children is treated in time, normal height is possible and most of the complications of the disease can be prevented.

In adults with growth hormone deficiency, the therapy significantly improves the quality of life of those affected in most cases.

The majority of patients with growth hormone deficiency and a normal MRI scan later develop normal growth hormone secretion. For this reason, the diagnosis of growth hormone deficiency and thus the therapy should be checked regularly.

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