Congenital hypothyroidismGene: TRHR
Comment on list classification: Updated rating from Grey to Green: 1 Green review (by gene submitter) plus 3 unrelated cases.
Created: 16 Feb 2017, 2:41 p.m.
PMID:26735259 (Koulouri et al., 2016) provides a 3rd case: a homozygous P81R mutation in a female patient with isolated central congenital hypothyroidism (CCH), together with functional studies of the mutated protein.
Created: 16 Feb 2017, 2:40 p.m.
PMID:19213692 (Bonomi et al., 2009) 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). Idiopathic and isolated hypothyroidism was diagnosed in the proband. The proband's apparently asymptomatic 33-year-old sister was also homozygous for the mutation; she had never had manifestations of hypothyroidism, but reported substantial improvement in physical and mental activities after receiving thyroxine-replacement therapy.
Created: 16 Feb 2017, 2:36 p.m.
In a 9-year-old Caucasian boy with isolated central hypothyroidism, Collu et al. (1997, PMID:9141550) identified compound heterozygosity for mutations in the TRHR gene.
Created: 16 Feb 2017, 2:34 p.m.
22 February 2017: Promoted to Version 1. Reviews were assessed, and panel was revised according to expert review and additional curation. After discussion with the reviewer and in-house clinicians, it was agreed to include the genes for 'combined pituitary hormone deficiency' (CPHD) on the panel, since patients can present with central hypothyroidism (CH). In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies.
This gene has been classified as Green List (High Evidence).
Phenotypes for TRHR were set to mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized
TRHR was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Literature
TRHR was created by [email protected]