Hypoprolactinemia as a Clue to Diagnosis of Mild Central Hypothyroidism due to IGSF1 Deficiency

• Main Authors: Anastasios Papadimitriou (Author), Anna Papadopoulou (Author), Kleanthis Kleanthous (Author), Dimitrios T. Papadimitriou (Author), Vassiliki Papaevangelou (Author)
• Format: Book
• Published: Galenos Yayincilik, 2020-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Loss-of-function mutations of IGSF1 are an X-linked cause of central hypothyroidism (CeH) and hypoprolactinemia. A boy who is now 15.2 years old presented at the age of 7.69 years for evaluation of obesity. Previous thyroid function evaluation suggested CeH [FT4 0.6 ng/mL, thyroid-stimulating hormon...