Thyroid Abnormalities in Children and Adolescents with McCune-Albright Syndrome

@article{Tessaris2012ThyroidAI,
  title={Thyroid Abnormalities in Children and Adolescents with McCune-Albright Syndrome},
  author={Daniele Tessaris and Andrea Corrias and Patrizia Matarazzo and Luisa De Sanctis and Malgorzata Gabriela Wasniewska and Maria Francesca Messina and Maria Cristina Vigone and Roberto Lala},
  journal={Hormone Research in Paediatrics},
  year={2012},
  volume={78},
  pages={151 - 157}
}
Background: To date, there is no agreement about the frequency or the features of thyroid abnormalities in McCune-Albright syndrome (MAS. [] Key Result The remaining 32 patients were euthyroid, even if 7 displayed sonographic alterations, of whom 5 had nodular goiter with nodules >1 cm, and 2 micronodular goiter. Fine-needle aspiration biopsy was performed in 2 patients with nodules >1 cm, 1 showing hemorrhagic nodule and 1 colloid cystic nodule.

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References

SHOWING 1-10 OF 39 REFERENCES
Thyroid abnormalities in the McCune-Albright syndrome: ultrasonography and hormonal studies.
TLDR
It is concluded that thyroid dysfunction is common in girls with MAS, but that it may be clinically occult and not rapidly progressive.
Thyroid disease in patients with McCune-Albright syndrome.
TLDR
Although thyroid cancer has been described in two cases of MAS, the prevalence of malignancy does not appear to be high and the therapeutic options in MAS involvement of the thyroid gland include thionamides, 131Iodine and surgery.
Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report.
We present a patient with hyperthyroidism associated with McCune-Albright syndrome (MAS). MAS is a sporadic genetic disease characterized by polyostotic fibrous dysplasia, cafe au lait cutaneous
[Hyperthyroidism related to McCune-Albright syndrome: report of two cases and review of the literature].
TLDR
Cases with hyperthyroidism are treated initially clinically, but definitive ablation with surgery or radioiodine treatment is the most indicated option.
Thyroid Carcinoma in the McCune-Albright Syndrome: Contributory Role of Activating Gsα Mutations
TLDR
Molecular analysis revealed that foci of malignancy and adjacent areas of hyperplasia and some areas of normal thyroid harbored activating mutations of Arg 201 in the GNAS1 gene, suggesting that the infrequent development of thyroid carcinoma in MAS patients involves additional mutational or epigenetic events.
McCune-Albright syndrome
TLDR
In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting.
Remission of Graves' hyperthyroidism treated with methimazole.
TLDR
Remission rate of long-term MMZ treatment of Graves' hyperthyroidism has substantially decreased in Mexico, since the previous report, and it is suggested that the results may be related to an increase of iodine intake or poor treatment, compliance.
Impact of endocrine hyperfunction and phosphate wasting on bone in McCune-Albright syndrome.
TLDR
Sonographic evidence of multiple diffused hyperechogenic spots in the testes of patients with MAS do not seem to be related to alterations in calcium-phosphate metabolism but rather to zonal dysplasia/hyperplasia of testicular tissue.
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