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© Clujul Medical, 2019
Affiliations
Ana Valea
UMF “Iuliu Haţieganu” Cluj-Napoca
Alina Silaghi
UMF “Iuliu Haţieganu” Cluj-Napoca
Adrian Ionuț Paul
UMF “Iuliu Haţieganu” Cluj-Napoca
Ileana Duncea
UMF “Iuliu Haţieganu” Cluj-Napoca
How to Cite
Noonan syndrome associated with cronic autoimmune thyroiditis
Vol 85 No 1 (2012)
Section: Case Report
Pages: 104-107
Abstract
Noonan syndrome is a genetic dominant disease that presents a wide variety of clinical characteristics. Frequently, the syndrome is associated with some autoimmune diseases, especially with chronic autoimmune thyroiditis. We report the case of a 21 years old girl diagnosed with Noonan syndrome and autoimmune thyroiditis relatively late, at the age of 20. The diagnosis was suggested by a cluster of significant clinical elements: facial dysmorphism, short stature, moderate mental retardation. The hormonal profile and karyotype contributed to the final certainty diagnosis. At this moment she is under thyroid substitution treatment.