Isolated Central Hypothyroidism in Young Siblings as a Manifestation of PROP1 Deficiency: Clinical Impact of Whole Exome Sequencing

摘要

Background/AimsCentral hypothyroidism (CH) in children is rare and may be due to a variety of genetic defects. Most of these defects, but not all, are associated with additional pituitary hormone deficits. In a young child presenting with CH, it is important to determine whether additional pituitary hormone deficiencies are present, but this may be difficult to establish clinically.