Endocrine Abstracts

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...