A Family with Complete Resistance to Thyrotropin-Releasing Hormone

We report on a family with recessive resistance to the action of thyrotropin-releasing hormone (TRH) due to a nonsense homozygous mutation in the TRH receptor (TRHR) gene (p.R17X). We examined the in vivo effects of complete refractoriness to the TRH signal in this family .Idiopathic and isolated hypothyroidism was diagnosed in the proband during investigation of growth retardation and short stature accompanied by lethargy and fatigue at 11.0 years of age (bone age, 8.5 years). A TRHR defect was suggested by the absence of thyrotropin and prolactin responses after TRH stimulation.