Role of a gene switch in pediatric pituitary hormone deficiency

摘要

Combined pituitary hormone deficiency causes symptoms such as short stature, metabolic disease, delayed puberty, and nervous system defects. Children with the deficiency have fewer hormone-secreting cells in the pituitary gland and, thus, lower levels of some pituitary and sex hormones. Although the role of the transcription factor, LHX3, in the development of the pituitary gland has been established, its role in the onset of the defi- ciency is poorly understood. Stephanie Colvin et al. (pp. 173-178) created a transgenic mouse with a mutant LHX3 protein lacking a carboxyl terminal domain implicated in regulating gene activity in the pituitary gland; previous research had identified the mutant LHX3 protein in four Lebanese siblings with the deficiency. Whereas deleting LHX3 leads to still-born mice, removing the protein's carboxyl terminal domain led to viable but dwarfed mice with symptoms of hypothyroid-ism and reduced levels of growth hormones at puberty and adulthood.