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Review
. 2022 Dec;190(4):471-477.
doi: 10.1002/ajmg.c.32013. Epub 2022 Nov 19.

Endocrinological manifestations in RASopathies

Federica Tamburrino  1 , Emanuela Scarano  1 , Concetta Schiavariello  1 , Annamaria Perri  1 , Andrea Pession  2 , Laura Mazzanti  3
Affiliations
Review

Endocrinological manifestations in RASopathies

Federica Tamburrino et al. Am J Med Genet C Semin Med Genet. 2022 Dec.

Abstract

The evaluation of endocrine involvement in RASopathies is important for the care and follow-up of patients affected by these conditions. Short stature is a cardinal feature of RASopathies and correlates with multiple factors. Growth hormone treatment is a therapeutic possibility to improve height and quality of life. Assessment of growth rate and growth laboratory parameters is routine, but age at start of therapy, dose and effects of growth hormone on final height need to be clarified. Puberty disorders and gonadal dysfunction, in particular in males, are other endocrinological areas to evaluate for their effects on growth and development. Thyroid dysfunction, autoimmune disease and bone involvement have also been reported in RASopathies. In this brief review, we describe the current knowledge on growth, growth hormone therapy, endocrinological involvement in patients affected by RASopathies.

Keywords: Noonan syndrome; RASopathies; growth; growth hormone therapy; puberty; thyroid function.

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References

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