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

• Main Authors: Aslı Derya Kardelen (Author), Esin Karakılıç Özturan (Author), Şükran Poyrazoğlu (Author), Firdevs Baş (Author), Serdar Ceylaner (Author), Sjoerd D. Joustra (Author), Jan M. Wit (Author), Feyza Darendeliler (Author)
• 格式: 圖書
• 出版: Galenos Yayincilik, 2023-12-01T00:00:00Z.
• 主題: article
• 在線閱讀: 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...