Endocrine Abstracts

LHX3, a member of the LIM-homeodomain family of developmental transcription factors, is required for establishment of mammalian anterior pituitary hormone-secreting cell types as well as the formation of specialized neurons of the nervous system. Paediatric patients with pituitary insufficiency are sometimes diagnosed with combined pituitary hormone deficiency disease (CPHD). This disease can be linked to mutations in essential pituitary developmental transcription factor gene...

To better understand the molecular and cellular nature of paediatric combined pituitary hormone deficiency diseases, our laboratory has recently generated a novel mouse model of the severe paediatric diseases caused by mutations in the LHX3 transcription factor gene. Through gene targeting, we have produced an Lhx3 W227Ter mouse modeling the LHX3 W224Ter (loss of carboxyl terminus) human disease. Patients with the W224Ter mutation are of short stature and ...

LHX3 is a LIM homeodomain transcription factor necessary for proper development of the pituitary and central nervous system. Patients with mutations in coding regions of the LHX3 gene have complex syndromes including combined pituitary hormone deficiency and nervous system defects resulting in symptoms such as dwarfism, thyroid insufficiency, infertility, and developmental delay. Although previous studies from our group and others have identified promoter and intronic elements...

Our goal is to better understand the molecular and cellular nature of paediatric combined pituitary hormone deficiency diseases in order to facilitate improved diagnosis, treatment, and family counselling. LIM-homeodomain transcription factors regulate many aspects of development and mutations in the genes that encode these regulatory proteins are associated with several diseases. The LHX3 LIM-homeodomain protein is critical for pituitary gland organogenesis and some nervous s...

LHX3, a LIM-homeodomain transcription factor, plays a critical role in pituitary and nervous system development. Mutations in the LHX3 gene are associated with combined pituitary hormone deficiency disease (CPHD). Two female siblings with neonatal complications were diagnosed with CPHD resulting from a novel, recessive mutation in LHX3. The index patient presented with classical symptoms of CPHD, featuring deficiencies of GH, LH, FSH, prolactin, TSH and later onset ACTH defici...