Shotaro Masuoka, Takashi Tanaka, Miwa Kanaji, Karin Furukawa, Keiko Koshiba, Zento Yamada, Eri Watanabe, Mai Kawazoe, Shun Ito, Ayako Fuchigami, Toshihiro Nanki
Noonan syndrome (NS) is a dominantly inherited genetic disorder with mutations in genes encoding components or regulators of the RAS/mitogen-activated protein kinase pathway. Its diagnosis is based on characteristic features, including typical facial features, a short stature, congenital heart disease, mild developmental delay, and cryptorchidism. Patients with NS sometimes develop autoimmune diseases, such as Hashimoto's thyroiditis and, rarely, systemic lupus erythematosus (SLE). We herein present a 29-year-old Japanese female with NS complicated by SLE and repeated severe hypoglycemia...
January 22, 2024: Modern rheumatology case reports