Congenital hypopituitarism (CH) is a common birth defect frequently associated with syndromic abnormalities in the central nervous system, ocular structures, face, and gonads. The most severe disorders have midline developmental anomalies and include holoprosencephaly, which is usually embryonic lethal, or septo-optic dysplasia. Less severe birth defects disrupt only hypothalamic or pituitary development, causing hormone deficiencies that affect viability, growth, fertility, metabolism, and the stress response, and may require life-long care. Over 60 genes are known to cause CH, many of which were first discovered in mice. Nonetheless, 81% of CH patients still lack a molecular diagnosis, which would be invaluable for planning treatment and predicting future risk.

Dr. Shannon Davis, Associate Professor in the Department, and his collaborators Drs. Sally Camper (University of Michigan), Lori Raetzman (University of Illinois), and Buffy Ellsworth (Southern Illinois University) were awarded an R01 grant from the National Institute of Child Health and Human Development (NICHD) to conduct a project titled "Discovery Pipeline for Genetic Defects in Hypothalamic-pituitary Development Using International Mouse Phenotyping Consortium Mice". Their project will focus on conducting a detailed phenotyping of existing embryonic lethal knockout mice with known genetic defects that result in hypothalamic and/or pituitary malformations. Results from this project will expand the molecular diagnoses for CH and associated midline deficiencies in humans and increase our understanding of organogenesis of these critical tissues. Congrats Shannon!