The multiple genetic causes of central hypothyroidism

Research output: Contribution to journalReview articlepeer-review


An insufficient stimulation by thyrotropin (TSH) of an otherwise normal thyroid gland represents the cause of Central Hypothyrodism (CeH). CeH is about 1000-folds rarer than Primary Hypothyroidism and often represents a real challenge for the clinicians, mainly because they cannot rely on adequately sensitive parameters for diagnosis or management, as it occurs with circulating TSH in PH. Therefore, CeH diagnosis can be frequently missed or delayed in patients with a previously unknown pituitary involvement. A series of genetic defects have been described to account for isolated CeH or combined pituitary hormone defects (CPHDs) with variable clinical characteristics and degrees of severity. The recently identified candidate gene IGSF1 appears frequently involved. This review provides an updated illustration of the different genetic defects accounting for CeH.

Original languageEnglish
Pages (from-to)255-263
Number of pages9
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Issue number2
Publication statusPublished - Mar 1 2017


  • central hypothyroidism
  • combined pituitary hormone deficiency
  • hypothyroidism
  • pituitary
  • thyrotropin
  • thyrotropin-releasing hormone

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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