Searchable abstracts of presentations at key conferences in endocrinology

ea0029s56.2 | Pituitary development transcription factors: stem cells and beyond | ICEECE2012

LHX3: an insightful model of pituitary hormone deficiency

Rhodes S. , Malik R. , Park S. , Prince K.

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...

ea0026p207 | Pituitary | ECE2011

Mechanism of anterior pituitary gene regulation by LHX3 in paediatric combined pituitary hormone deficiency

Malik R , Hunter C , Colvin S , Rhodes S

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...

ea0029p1331 | Pituitary Basic | ICEECE2012

A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency

Malik R. , Park S. , Bechtold-Dalla Pozza S. , Hiedl S. , Roeb J. , Lohse P. , Duran-Prado M. , Rhodes 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...