Refetoff syndrome (GTHR) – 6 Symptoms and Signs

What is Refetoff syndrome (GTHR)

This congenital genetic disorder is an autosomal recessive form of thyroid hormone resistance

This condition is caused by mutation in the thyroid hormone receptor gene, as is selective pituitary resistance to thyroid hormone 

Synonyms

  • Deafness-thyroid hormone resistance syndrome
  • Generalized resistance to thyroid hormone
  • GTHR
  • Thyroid Hormone Unresponsiveness

Epidemiology

40 cases have been reported worldwide

Age of onset

  1. Childhood
  2. Infancy
  3. Neonatal

Symptoms and Signs of Refetoff syndrome

  1. Ears– Congenital deafness
  2. Low birth weight for dates
  3. Eyes– Exophthalmos
  4. Skeleton– Stippled epiphyses
  5. Neck– Goiter
  6. Endocrine– End organ unresponsiveness to thyroid hormone
    – Thyroid hormone receptor-beta gene (THR1) deletion
    – Clinical euthyroidism

Diagnosis

Abnormally high PBI
– Elevated blood thyroid hormones
– Elevated thyrotropin
– Normal response to thyrotropin-releasing hormone



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