A rare case of noonan syndrome associated with celiac disease and delayed puberty

Noonan syndrome (NS) is a genetic disorder characterized by short stature, congenital heart defects, and distinctive facial features. This report presents the case of a 19-year-old male with delayed puberty. He was diagnosed with acyanotic congenital heart disease at 1 year of age, for which he underwent multiple cardiac surgeries from 2005 to 2007. On examination, he had multiple stigmata of NS, including dysmorphic facies, low-set ears, pterygium colli, pectus carinatum, and bilateral cryptorchidism. Lab results showed anemia, elevated IgA anti-tissue transglutaminase, low testosterone, and high luteinizing hormone and follicle-stimulating hormone levels. Genetic testing confirmed NS with a protein tyrosine phosphatase, non-receptor type 11 mutation. This case highlights the need for comprehensive evaluation of autoimmune diseases including celiac disease in patients with NS.