Searchable abstracts of presentations at key conferences in endocrinology

ea0033oc2.7 | Oral Communications 2 | BSPED2013

Novel lethal form of hypopituitarism associated with the first recessive LHX4 mutation

Gregory Louise C , Rhodes Simon J , Levy Miles J , Greening James , Humayun Khadija , Dattani Mehul T

Background: LHX4 encodes a member of the LIM-homeodomain transcription factor protein family that is required for development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies (CPHD).Objective/hypothesis: To investigate a cohort of patients with congenital hypopituitarism for mutations in LHX4.<p c...