McCune-Albright syndrome is a genetic disease that causes pigmentation of the skin and also affects the bones. This syndrome is caused by mutations in the GNAS1 gene. A small number of the patient’s cells may contain the faulty gene. This disease does not get inherited i.e. it does not get transferred from the parent to the offspring.
The syndrome has a variety of presentations and therefore, the diagnosis as well as treatment of this condition requires he healthcare provider to be extra cautions of the many possibilities behind the occurrence of the symptoms before confirming it to be McCune-Albright syndrome.
One of the first things that is done for the treatment of McCune-Albright syndrome is first referring the patient to an endocrinologist after the diagnosis of MAS is made. This is because an endocrinologist is experienced in the management of MAS. A primary care physician such as a pediatrician can help in coordinating the multiple aspects of care for McCune-Albright syndrome patient.
There are no specific medications that are prescribed for treating the problems that happen in bones of MAS patients. Painkillers may be prescribed to control the physician anguish that is suffered as a result of this syndrome. Irradiation of the bone must be avoided unless such a treatment is absolutely necessary for the recovery of the patient. This is because irradiation may increase risk of sarcomatous degeneration.
Therapy may be provided for precocious puberty, which is easily available and guardians of the therapy may give it a try. For females, the aim is to block the effects of estrogen. Also, up until now aromatase inhibitors have been considered the mainstay of therapy in girls who have persistent estradiol elevation.
Changes in diet and activity may also help people to manage MAS better. Seek help from your doctor to devise a diet and activity plan.
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