Health, Diseases and Conditions
Albright Syndrome. McCune-Albright-Breitsev Syndrome. Causes, treatment
The McCune-Albright Syndrome was named after two distinguished physicians who described it more than half a century ago. They told the society about children, most of whom were girls. Many of them had low growth, round face, short neck, truncated IV and V metatarsal or metacarpal bones, muscle spasms, skeletal changes, delayed teething, and enamel hypoplasia. There was also a delay in mental development and endocrine diseases, expressed by early puberty with menstrual bleeding, development of the breast, growth of pubic and breast hair, increased growth rates of children and skin changes.
In modern medicine, the term "Albright syndrome" is used for patients who have all or only some endocrine and skin anomalies. There are cases when the diagnosis was made in early childhood. However, in typical cases, it is placed in children aged 5-10 years, based on the signs that are characteristic of this disease. In general, it is rare and is inherited. Both the etiology and the pathogenesis of this disease remain unknown. Let's look at the signs of the disease.
Disorders in the endocrine system
Most often, girls with Albright syndrome experience premature puberty, which is caused by estrogens released into the blood from the ovarian cyst. Cysts can increase, after decreasing in size for several weeks or days. Using the ultrasound procedure, it is possible to see and measure the size of the lesions. Cysts can grow to quite decent size. There were cases when it grew to the size of a golf ball, that is, more than 50 mm in diameter.
Breast augmentation and menstrual bleeding are observed along with the growth of the cyst. If the girl has begun menstruation before 2 years, this is the first symptom of Albright's syndrome. However, the presence of irregular menstruation and ovarian cysts can occur in adolescents as well as in adult women. This all does not interfere with having healthy children.
Treatment of children with premature puberty is difficult and ineffective. Even if the cyst is surgically removed, it may reappear. When taking the hormone of progesterone, menstruation can be stopped, but the rapid rates of development and growth of bones do not slow down. Possible negative consequences for the work of the adrenal glands. At treatment preparations for reception inside, blocking synthesis of an estrogen are used.
Thyroid function
50 percent of people with Albright syndrome suffer from thyroid dysfunction. This is the so-called goiter, nodules and cysts. In rare cases, subtle structural changes are possible. In these patients, the level of thyroid-stimulating hormone produced by the pituitary gland is low, but thyroid hormone levels have normal values or are slightly elevated. Treatment is carried out, with the help of which the synthesis of thyroid hormones decreases. It is indicated in those cases when the level of secreted hormones is high enough.
Excessive growth hormone secretion
With the disease, the pituitary gland begins to release a large amount of growth hormone. In children who were diagnosed as Albright syndrome, acromegaly was found. The young men began to appear rough features, quickly increased their arms and legs, they could suffer from arthritis. Treatment of children with such signs is reduced to surgical removal of the pituitary gland and the use of synthesized analogues of the hormone somatostatin, suppressing the production of growth hormone.
Other endocrine disorders
It is rare that there is excessive secretion and expansion of the adrenal glands. Such a violation can lead to obesity in the trunk and face, weight gain, stunting and skin fragility. All these symptoms were called Cushing's syndrome. With such changes, the affected adrenal gland is removed or drugs are taken that reduce the synthesis of cortisol.
Sometimes in children who have Albright syndrome, a very low level of phosphorus is observed in the blood due to a large loss of phosphate in the urine. This disorder can be the cause of changes in bones associated with rickets. As treatment appoint oral phosphates and vitamin D in addition.
Skin disorders
On the skin from birth or soon after it there are spots of color "coffee with milk." They often appear on the sacrum, trunk, extremities, buttocks, the back surface of the neck, forehead, on the scalp, the occiput. All of them are also a sign that the child has Albright's syndrome. Photos of these spots can be seen below.
Although with a disease such as neurofibromatosis, there are also spots of "coffee with milk" color. However, Albright syndrome is characterized by larger spots with irregular outlines, fewer in number. They have a diameter of 1 to several centimeters, a brown hue. The color of all the same, they are oval in shape, they are characterized by a smooth surface. In histological studies, it is most often found that the epidermis is not altered in its structure, but the amount of melanin in keratinocytes is slightly increased.
Single spots of this type can also occur in completely healthy people. If they do not disturb and do not grow, then there is no need for treatment. If there is intense growth, there are patches of irregular shape, then it is recommended to examine them histologically. And then delete surgically.
Conclusion
Thus, it can be said that the syndrome of Albright is characterized by the defeat of bones or skull, the presence of pigment spots on the skin, early puberty. Although there are cases when only the first two symptoms are present. In general, the main symptom of the syndrome is bone lesions (osteodysplasia). However, at the onset of puberty, this process is suspended. In adults, bone changes do not progress. In general, with the identification and proper treatment, the prognosis of the therapy of this disease is quite favorable.
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