McCune-Albright syndrome is a genetic disorder characterised by precocious puberty, bone disorders and skin pigmentation. The syndrome is caused through disturbances with the GNAS gene, but the condition is not inheritable. There is no specific treatment, but hormonal injections have been tried with variable success.
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Symptoms of McCune-Albright syndrome depend on which part of the body it affects, and the severity with which the patient has the condition – and whether the patient is at their child, adolescent or adult phases of the syndrome. Notwithstanding this, there are numerous hallmark symptoms that have come to typify this condition, such as:
The café-au-lait skin pigmentation tends to be seen on the back. This is a typical diagnostic factor for the skin. Patients also tend to have deformed bones, which leads to irregular facial appearances. Endocrine disorders are also not uncommon, and may affect many different organs – particularly those of the pituitary and adrenal glands, however.
The cause of McCune-Albright syndrome is genetic. The precise genetic mutations are quite complex but are, nonetheless, well understood. Causes of McCune-Albright syndrome include:
McCune-Albright syndrome is caused by a disruption to the GNAS gene. This gene is responsible for signal transduction – or the processes which allow cells to communicate to themselves as well as to other cells. McCune-Albright syndrome is not caused through genetic inheritance.
McCune-Albright syndrome is diagnosed by the presence of physical and developmental markers. Clinical presentation is variable, depending on the patient in question. In this regard, diagnostic options for this syndrome include:
One of the most typical diagnostic markers is the presence of skin pigmentation. This is known as café-au-lait pigmentation – light brown to dark brown skin marks. Patients with McCune-Albright syndrome tend to have precocious puberties – such as enhanced breast development and sexual maturity. Other conditions, such as hyperthyroidism, and other endocrinology-related problems may also emerge.
There is no cure for McCune-Albright syndrome, but the condition is both treatable and manageable. Treatments chosen depend on the age and status of the patient, and what symptoms they present to the doctor. Treatment options include, but are not limited, to:
Drugs – like testolactone – may be used to alleviate hormonally-caused symptoms. It works by blocking estrogenic production. Surgery is quite commonly employed as a treatment for McCune-Albright syndrome, as the condition is associated with bone disorders which involve damaging fibrous tissue. Patients often visit an endocrinologist to determine the exact course of treatment, as the condition is quite rare.
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