Endocrine Abstracts

UPD is a congenital disease characterized by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Its effects can be dramatic when the expression of essential genes is lacking. This is due to a phenomenon known as genomic imprinting where only one of the two chromosomal copies is active, depending on the parent of origin. Maternal uniparental disomy of the chromosome 14 (UPD 14 mat) is a rare disorder characterized by prenatal a...

Background: Traumatic brain injury (TBI) is a major cause of disability and death, and a cause of neuroendocrine dysfunction. Partial or complete pituitary dysfunction is a frequent event occurring in 25–50% of subjects after a TBI as result from damage to either the pituitary or the hypothalamus. This large variability depends on the screening methods and on the difficulty to predict the effects of the trauma on pituitary. Growth hormone deficiency and gonadotropin defic...