McCune-Albright Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Albright syndrome, or better known as McCune-Albright syndrome is a form of genetic disorder characterized by abnormalities in bone, skin, connective tissue, and hormonal disturbances.
This disease is quite rare. It is estimated that one in one million people has Albright Syndrome. The number of male and female sufferers is almost the same. This syndrome can be experienced by all racial groups. So, no particular racial group is more vulnerable.
McCune-Albright Syndrome Symptoms
Symptoms of Albright Syndrome can be seen from birth, they can also only be seen when they are toddlers. Symptoms in girls generally appear earlier.
Symptoms of Albright Syndrome include:
- Precocious puberty, namely puberty conditions that occur too quickly. Those with this disorder have puberty before the age of nine in boys and before the age of eight in girls.
- Skin hyperpigmentation (darker skin), or often referred to as café-au-lait because there are parts of the skin that are coffee-colored.
- Bones break easily, or also known as pathological fractures. This bone fragility occurs due to disturbances in the formation of connective tissue throughout the body.
- Sometimes, sufferers of Albright Syndrome also experience hyperthyroidism (thyroid hormone levels are higher than normal), which is characterized by complaints of heart palpitations, easy sweating, easy overheating, tremors, and tends to lose weight.
- One of the hormone disorders that also often occurs in Albright Syndrome is excess growth hormone ( growth hormone ). This causes sufferers to experience greater growth than most people. Stature tends to be tall and large (medically called gigantism).
McCune-Albright Syndrome Reason
Albright syndrome is caused by a mutation in a gene called GNAS1. However, the conditions that cause this gene to mutate are not known until now.
GNAS1 gene mutations do not pass from parent to child but occur randomly. This GNAS1 mutation is also known to occur during the process of fetal development in the womb.
Diagnosis
If the doctor suspects that a person has Albright Syndrome, a thorough hormone examination must be carried out. Generally, it will be found that the hormone testosterone (in men) and the hormone estradiol (in women) will increase.
Abnormalities in other hormones can also occur, such as thyroid hormone, cortisol hormone, and so on. To confirm this disease, it is necessary to do a genetic examination. The presence of a mutation in the GNAS1 gene will confirm the existence of Albright Syndrome.
McCune-Albright Syndrome Treatment
Until now there is no treatment to cure Albright Syndrome. This disease generally requires treatment from various fields, especially from endocrinologists and orthopedic specialists.
The most important thing to note in this therapy is to take action to prevent fractures (pathological fractures). To prevent this, sufferers of Albright Syndrome are advised not to do sports that are too strenuous. In addition, drugs to increase bone strength such as bisphosphonate class drugs can be given.
To prevent precocious puberty, some sufferers will receive medication to prevent the hormones testosterone (in boys) and the hormone estrogen (in girls) from working too quickly to mature sexual function.
If a tumor is found in the brain that causes all the hormones to come out in excess, sometimes brain surgery has to be done to remove the tumor.
Patients with Albright Syndrome must be monitored regularly by a doctor. Monitoring is important to see the presence of hormonal disturbances and the occurrence of tumors. This needs to be done considering that sufferers of Albright Syndrome are more prone to developing malignant tumors.
Prevention
Because the cause of the gene mutation that causes Albright Syndrome is unknown, until now there is no action that can be taken to prevent this disease.