A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

• 主要な著者: Aslı Derya Kardelen (著者), Esin Karakılıç Özturan (著者), Şükran Poyrazoğlu (著者), Firdevs Baş (著者), Serdar Ceylaner (著者), Sjoerd D. Joustra (著者), Jan M. Wit (著者), Feyza Darendeliler (著者)
• フォーマット: 図書
• 出版事項: Galenos Yayincilik, 2023-12-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

IGSF1 deficiency is a rare X-linked condition characterized by central hypothyroidism and a wide variety of other clinical features with variable prevalence, including a delayed pubertal testosterone rise and growth spurt in the context of normal or accelerated testicular growth, and adult macroorch...