Mc Cune Albright Syndrome

Q1: What is Mc Albright syndrome?

Mc Cune Albright Syndrome is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty.

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McCune–Albright syndrome is suspected when two of the three following features are present:
• Endocrine hyperfunction such as precocious puberty

• Polyostotic fibrous dysplasia

• Unilateral Café-au-lait spots

Q2: Symptoms of Mc Albright syndrome?

Precocious puberty – Breast development, genital maturation and macroirchidism ( a disorder found in males where a subject has abnormally large testes. The condition is commonly inherited in connection with fragile X syndrome, which is also the second most common genetic cause of mental disabilities.)

• Café-au-lait pigmentation: This consists of spots ranging from light brown and dark brown color.

• PFD (polyostotic fibrous dysplasia) -   Multiple pathologic fractures may be prominent early in the history.

•  Hyperthyroidism

Other possible signs may be:
• Cushing syndrome
• Acromegaly
• Growth hormone excess
• Ovarian cyst
• Pituitary tumor
• Thyroid tumor
• Hypophosphatemia
• Hypogonadotrophic  hypogonadism

Q3: Why does one get affected by Mc Albright Syndrome?

McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in ”GNAS gene” that occurs very early in development. As a result, some of the body’s cells have a normal version of the GNAS gene, while other cells have the mutated version. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. Affected individuals may have reproductive cells (eggs or sperm) with the mutation. So, the condition is not passed to the next generation.

Q4: Is it that some people are more likely to suffer from Mc Albright Syndrome as compared to others?

The onset of MAS can occur at almost any time during childhood. But it occurs commonly in early childhood.
Both sexes are affected by MAS but the syndrome has been reported more in females as compared to males.

Q5: Is there any prevention?

It is a genetic mutation and it occurs in 1 in 100,000 to 1 in 1,000,000 people worldwide, therefore no such prevention is there.

Q6: What is the treatment for Mc Albright Syndrome?

There is no specific treatment for MAS.

• Treatment given for precocious puberty in MAS include the following:
Aromatase inhibitors, Gonadotropin releasing hormone, Ketoconazole, Estrogen receptor agonists etc

• Agents used to treat hyperthyroidism:
Thionamides,  Methimazole, Radioiodine

• Hypogonadism: Hormone replacement therapy

• Hypophosphatemia with hyperphosphaturia: Oral phosphorus replacement

• Surgical interventions may include:

Precocious puberty- oophorectomy or ovarian cystectomy

PFD- transation or fixation for fractures

Hyperthyroidism- Thyroidectomy

Q7: What are the investigations for Mc Albright Syndrome?

Full endocrine studies should be performed-:
• Testosterone or estradiol levels are elevated.
• Gonadotropin levels are usually reduced or normal.

Blood and urine chemistry:Individuals with MAS may have elevated liver enzymes or hyperbilirubinemia.

Thyroid testing: Elevated thyroxine levels and suppressed thyroid-stimulating hormone (TSH) levels are consistent with hyperthyroidism.

Dexamethasone suppression tesing: Elevated cortisol levels suggest Cushing syndrome.

• Radiography
• Ultrasonogarphy
• CT Scan
• MRI
• Radionuclide bone scanning.

Q8: How effective homeopathy in treating Mc Albright Syndrome?

Homeopathic medicines will help symptomatically and it improves the quality of life. However prognosis of the disease is difficult because in Mc Albright disease there is mutation of the genes, so cure is not possible.

Some of the indicated medicines in homeopathy are:

-Calc- phos,

-iodium,

-phosphorus.

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