Congenital hypothyroidism
Gene: LHX4Comment on list classification: Updated rating from Grey to Green: 1 Green review (from gene submitter). Plus >3 cases of LHX4 mutations causing combined pituitary hormone deficiency, which can present with CH. Confirmed DD-G2P gene. At least 1 case mentions hypothyroidism specifically (PMID:25955177).Created: 21 Feb 2017, 10:33 a.m.
LHX4 is an early pituitary transcription factor. Mutations in early or late pituitary transcription factors may cause central hypothyroidism (CH), a particular hypothyroid condition due to an insufficient stimulation by TSH of an otherwise normal thyroid gland. In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies [PMID:26416826].Created: 21 Feb 2017, 10:29 a.m.
>3 cases of LHX4 mutations causing Pituitary hormone deficiency, combined, 4 (MIM:262700).Created: 20 Feb 2017, 11:16 a.m.
Confirmed DD-G2P gene for LHX4-related combined pituitary hormone deficiency.Created: 20 Feb 2017, 11:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
GH, TSH, ACTH, variable gonadotrophin deficiencies, cerebellar abnormalities, anterior pituitary hypoplasia, etopic posterior pituitary
Publications
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.
Phenotypes for LHX4 were set to GH, TSH, ACTH, variable gonadotrophin deficiencies; cerebellar abnormalities; anterior pituitary hypoplasia; etopic posterior pituitary; Pituitary hormone deficiency, combined, 4, 262700
Publications for LHX4 were set to 11567216; 26416826 (2015 review); 25955177
This gene has been classified as Green List (High Evidence).
Publications for LHX4 were set to 11567216; 26416826 (2015 review)
Phenotypes for LHX4 were set to GH, TSH, ACTH, variable gonadotrophin deficiencies, cerebellar abnormalities, anterior pituitary hypoplasia, etopic posterior pituitary; Pituitary hormone deficiency, combined, 4, 262700
LHX4 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Literature
LHX4 was created by [email protected]