NIH R01 · 2024
Abstract 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…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.