Recent advances in central congenital hypothyroidism.
London, United Kingdom. In J Endocrinol, Dec 2015
Genetic ascertainment is possible in a minority of cases and reveals mutations in genes controlling the TSH biosynthetic pathway (TSHB, TRHR, IGSF1) in isolated TSH deficiency, or early (HESX1, LHX3, LHX4, SOX3, OTX2) or late (PROP1, POU1F1) pituitary transcription factors in combined hormone deficits.
Genetic Defects in Thyroid Hormone Supply
Madagascar. In Unknown Journal, 2015
This situation can be determined by alterations in genes involved in ontogeny of the thyroid, including PIT1 and PRPO1, HESX1, LHX3, LHX4 and SOX3 as well as by mutation in the TSH-beta or in the immunoglobulin superfamily member 1 (IGSF1) genes.
Genetic disorders of the pituitary.
Boston, United States. In Curr Opin Endocrinol Diabetes Obes, 2012
RECENT FINDINGS: Novel mutations have been found in transcription factors involved in pituitary development, HESX1; LHX3; LHX4; SOX3; Prophet of Pit-1; and POU1FI, and in some of the signaling molecules expressed in the ventral diencephalon (fibroblast growth factor 8 and GLI2).