An uncommon genetic illness called McCune-Albright syndrome (MAS) was first identified by the triad of polyostotic fibrous dysplasia, early puberty, and CAL (café-au-lait spots). The endocrine (hormone-producing) system, the skin, and many bones and skin tissues are all impacted by McCune-Albright syndrome.
The endocrinopathies seen in this condition today include a number of endocrine disorders, such as acromegaly, hyperthyroidism, Cushing syndrome, and phosphate wastage. A somatic triggering mutation of the GNAS genes, which is found in many different types of tissues, is the cause of the varied spectrum of symptoms.
According to estimates, MAS affects between 1 per 100,000 and 1 per 1,000,000 people.
Clinical MAS symptoms are caused by a rise in intracellular cyclic adenosine monophosphate signaling. Depending on the different tissues where the mutation arises will determine the phenotype. Increased cyclic adenosine monophosphate in bone induces stromal cell differentiation in osteoblasts while preventing additional differentiation, leading to FD (fibrous dysplasia).
FGF23 (Fibroblastic growth factor-23), a phosphaturic hormone, is then secreted in greater amounts by this FD lesion, leading to kidney phosphate going to waste. CAL is caused by increased cyclic adenosine monophosphate signaling in the skin, which stimulates the formation of melanin via alpha-MSH.
An increase in cyclic adenosine monophosphate in an endocrine region causes that tissue to produce and secrete more of a particular hormone product. The adrenal glands, thyroid glands, pituitary glands, parathyroid, and gonads are examples of endocrine tissues that may be impacted.
A spontaneous post-zygotic mutated gene at the GNAS gene’s ARG201 or Gln227 occurs through embryogenesis and results in MAS. A G-signaling compound is present in a variety of tissue types, including bone, endocrine regions, and skin. is encoded by the gene GNAS.
The indications and symptoms that manifest depend on when the mutation develops and are distributed in a mosaic pattern. The alpha subunit of altered GNAS becomes constitutively active, increasing intracellular cyclic adenosine monophosphate and regulating the activity of the downstream mechanism of hormones.
Due to the disease’s variable severity, determining the prognosis may be difficult. Clinically significant bone fractures and pain are more likely to occur in younger sufferers with polyostotic lesions and kidney phosphate wastage.
Maintaining potential adult height is the main therapeutic objective for premature puberty. Short stature results from early closure of the growth plates in the absence of treatment. FD lesions have a small chance of developing into cancer. Additionally, there are claims of a higher risk of breast carcinoma.
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https://www.ncbi.nlm.nih.gov/books/NBK537092/
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An uncommon genetic illness called McCune-Albright syndrome (MAS) was first identified by the triad of polyostotic fibrous dysplasia, early puberty, and CAL (café-au-lait spots). The endocrine (hormone-producing) system, the skin, and many bones and skin tissues are all impacted by McCune-Albright syndrome.
The endocrinopathies seen in this condition today include a number of endocrine disorders, such as acromegaly, hyperthyroidism, Cushing syndrome, and phosphate wastage. A somatic triggering mutation of the GNAS genes, which is found in many different types of tissues, is the cause of the varied spectrum of symptoms.
According to estimates, MAS affects between 1 per 100,000 and 1 per 1,000,000 people.
Clinical MAS symptoms are caused by a rise in intracellular cyclic adenosine monophosphate signaling. Depending on the different tissues where the mutation arises will determine the phenotype. Increased cyclic adenosine monophosphate in bone induces stromal cell differentiation in osteoblasts while preventing additional differentiation, leading to FD (fibrous dysplasia).
FGF23 (Fibroblastic growth factor-23), a phosphaturic hormone, is then secreted in greater amounts by this FD lesion, leading to kidney phosphate going to waste. CAL is caused by increased cyclic adenosine monophosphate signaling in the skin, which stimulates the formation of melanin via alpha-MSH.
An increase in cyclic adenosine monophosphate in an endocrine region causes that tissue to produce and secrete more of a particular hormone product. The adrenal glands, thyroid glands, pituitary glands, parathyroid, and gonads are examples of endocrine tissues that may be impacted.
A spontaneous post-zygotic mutated gene at the GNAS gene’s ARG201 or Gln227 occurs through embryogenesis and results in MAS. A G-signaling compound is present in a variety of tissue types, including bone, endocrine regions, and skin. is encoded by the gene GNAS.
The indications and symptoms that manifest depend on when the mutation develops and are distributed in a mosaic pattern. The alpha subunit of altered GNAS becomes constitutively active, increasing intracellular cyclic adenosine monophosphate and regulating the activity of the downstream mechanism of hormones.
Due to the disease’s variable severity, determining the prognosis may be difficult. Clinically significant bone fractures and pain are more likely to occur in younger sufferers with polyostotic lesions and kidney phosphate wastage.
Maintaining potential adult height is the main therapeutic objective for premature puberty. Short stature results from early closure of the growth plates in the absence of treatment. FD lesions have a small chance of developing into cancer. Additionally, there are claims of a higher risk of breast carcinoma.
https://www.ncbi.nlm.nih.gov/books/NBK537092/
medtigo
McCune Albright Syndrome
Updated :
August 25, 2022
An uncommon genetic illness called McCune-Albright syndrome (MAS) was first identified by the triad of polyostotic fibrous dysplasia, early puberty, and CAL (café-au-lait spots). The endocrine (hormone-producing) system, the skin, and many bones and skin tissues are all impacted by McCune-Albright syndrome.
The endocrinopathies seen in this condition today include a number of endocrine disorders, such as acromegaly, hyperthyroidism, Cushing syndrome, and phosphate wastage. A somatic triggering mutation of the GNAS genes, which is found in many different types of tissues, is the cause of the varied spectrum of symptoms.
According to estimates, MAS affects between 1 per 100,000 and 1 per 1,000,000 people.
Clinical MAS symptoms are caused by a rise in intracellular cyclic adenosine monophosphate signaling. Depending on the different tissues where the mutation arises will determine the phenotype. Increased cyclic adenosine monophosphate in bone induces stromal cell differentiation in osteoblasts while preventing additional differentiation, leading to FD (fibrous dysplasia).
FGF23 (Fibroblastic growth factor-23), a phosphaturic hormone, is then secreted in greater amounts by this FD lesion, leading to kidney phosphate going to waste. CAL is caused by increased cyclic adenosine monophosphate signaling in the skin, which stimulates the formation of melanin via alpha-MSH.
An increase in cyclic adenosine monophosphate in an endocrine region causes that tissue to produce and secrete more of a particular hormone product. The adrenal glands, thyroid glands, pituitary glands, parathyroid, and gonads are examples of endocrine tissues that may be impacted.
A spontaneous post-zygotic mutated gene at the GNAS gene’s ARG201 or Gln227 occurs through embryogenesis and results in MAS. A G-signaling compound is present in a variety of tissue types, including bone, endocrine regions, and skin. is encoded by the gene GNAS.
The indications and symptoms that manifest depend on when the mutation develops and are distributed in a mosaic pattern. The alpha subunit of altered GNAS becomes constitutively active, increasing intracellular cyclic adenosine monophosphate and regulating the activity of the downstream mechanism of hormones.
Due to the disease’s variable severity, determining the prognosis may be difficult. Clinically significant bone fractures and pain are more likely to occur in younger sufferers with polyostotic lesions and kidney phosphate wastage.
Maintaining potential adult height is the main therapeutic objective for premature puberty. Short stature results from early closure of the growth plates in the absence of treatment. FD lesions have a small chance of developing into cancer. Additionally, there are claims of a higher risk of breast carcinoma.
https://www.ncbi.nlm.nih.gov/books/NBK537092/
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