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.

Keywords

Noonan syndrome, short stature, facial dysmorphism