Pituitary dwarfism – diagnosis, treatment

Proven content

Pituitary dwarfism is the result of an almost total hypothalamic or anterior pituitary insufficiency caused by congenital underdevelopment or damage in early childhood, resulting in a deficiency of growth hormone.

Pituitary dwarfism – definition

Pituitary dwarfism is a condition characterized primarily by growth arrest (the earlier the disease started, the greater the growth arrest). Growth arrest is accompanied by childhood body proportions that correspond to the age at which growth was stopped. Mental development is properly maintained. Pituitary dwarfism is an endocrine disorder caused by a reduced amount of growth hormone produced by the body. The dwarf is an adult person, but in miniature.

Attention! Pituitary dwarfism differs from pituitary dwarfism resulting from prolapse of the activity of, for example, the thyroid gland. We can observe significant mental retardation in thyroid dwarfism.

What causes pituitary dwarfism?

We can list many factors that influence growth hormone deficiency and thus the occurrence of pituitary dwarfism. What influences the formation of growth deficiency in our body?

1. tumor;
2. inflammations;
3. injuries;
4. autoimmune diseases;
5. vascular disorders;
6. intraoperative damage.

Clinical symptoms appear due to a decrease in growth hormone in the blood serum. Sometimes its deficiency is genetically determined.

What does growth hormone insensitivity mean?

Growth hormone insensitivity is a situation in which, despite the presence of growth hormone in the serum, symptoms typical of GH deficiency appear. We can then suspect that we are dealing with growth hormone binding disorders and thus the lack of its effects.

Due to this ailment, tests show an increased or normal concentration of growth with a simultaneous lack of IGF-1 in the blood. Where is it coming from? Genetic disorders play a major role here. Mutations that appear in the genes responsible for the morphology of the somatoliberin receptor result in the production of an abnormal molecule that does not match the cell membrane and does not attach the hormone.

It is also worth mentioning the autoantibodies directed against the receptors. Normal – antibodies protect the body against harmful microbes, but sometimes the body reacts in reverse and it begins to produce molecules that attack its own cells. As a consequence, the properly developed receptors are blocked, and thus the hormone binding is limited.

In growth hormone insensitivity syndromes, patients are now successfully treated with IGF-1. The obstacle in its use is, unfortunately, the high price.

Laron’s dwarfism

It is a condition that belongs to the growth hormone insensitivity syndrome. This condition is due to an autosomal recessive inheritance of a defect in the growth hormone receptor (the concentration of growth hormone transporter protein is elevated) or a defect outside the receptor, where the protein concentration is normal. Patients suffering from Laron’s dwarfism have elevated levels of growth hormone due to lowered or absent IGF-1 levels due to an inhibitory feedback effect.

Among other reasons for the lack of sensitivity to growth hormone we can distinguish:

1. diabetes;
2. wasting the body;
3. kidney disease;
4. liver disease.

Growth hormone insensitivity – symptoms

The most characteristic symptoms of growth hormone insensitivity are:

1. short stature;
2. delayed sexual development;
3. short body length at birth;
4. small hands and feet;
5. large skull;
6. underdevelopment of the penis in boys;
7. developed fatty tissue (especially around the belly).

Important! Young children can develop so-called hypoglycaemia, which is a drop in blood glucose (below 55 mg / dl). This is very dangerous especially when the newborn has hypoglycemia. The symptoms of this ailment include:

1. seizures
2. weakness,
3. nausea,
4. vomiting,
5. excessive sweating
6. anxiety,
7. somnolence,
8. muscle tremors
9. accelerated heart rate,
10. sometimes even respiratory and circulatory arrest occurs.

Pituitary Dwarfism – Diagnosis

Establishing the correct diagnosis of pituitary dwarfism requires numerous specialized biochemical tests, often with the use of isotope methods. Diagnostics should begin with a medical interview with the patient and gathering detailed information about the symptoms. The doctor usually asks about the height of parents and siblings and relatives. This is important information as short stature is usually inherited and not necessarily a result of a hormonal imbalance.

Another physical examination is carried out to assess the body structure, its proportions and symmetry. The doctor then recommends performing laboratory tests to determine the concentration of hormones, because they can cause growth deficiency.

The following factors are taken into account in the diagnosis of pituitary dwarfism:

1. GHBP binding protein concentration;
2. growth hormone deficiency determined with the help of percentile grids or compared to the height of parents or general population norms;
3. blood growth hormone concentration – basic measurement that is tested spontaneously during sleep or in a diurnal profile, or is stimulated;
4. study of the concentrations of basal and stimulated GH-dependent proteins: IGF-1.

Pituitary dwarfism – treatment

The most common treatment for pituitary dwarfism is to administer growth hormone intravenously (several times a week). In some situations, it is necessary to undergo pituitary gland surgery. In addition, some patients receive radiation therapy. Patients should remember about a proper diet, plenty of sleep and physical activity.

Also read: Small is beautiful

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