The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

• 主要な著者: Steven Ghanny (著者), Aliza Zidell (著者), Helio Pedro (著者), Sjoerd D. Joustra (著者), Monique Losekoot (著者), Jan M. Wit (著者), Javier Aisenberg (著者)
• フォーマット: 図書
• 出版事項: Galenos Yayincilik, 2021-12-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males. These characteristic include almost universal congenital central hypothyroidism (CeH) with disharmonious pubertal development (normally timed testicular growth, but delaye...