Endocrine Abstracts

Pituitary adenylate cyclase activating polypeptide - related peptide (PRP) (formerly known as growth hormone releasing hormone-like peptide GHRHLP) can act as a hypophysiotropic factor in several teleosts by stimulating growth hormone (GH) secretion. However, as yet, no information on this peptide as a regulator of reproduction exists. Recently, the full-length PRP cDNA was cloned in the blue gourami (Trichogaster trichopterus) and was found to be expressed in the brain...

Studies conducted using knockout mouse model revealed that defects of PROKR2 affect the correct ontogeny of GnRH neurons and, by consequence, neuroendocrine control of reproduction. Nevertheless its exact role during these processes and in the pathogenesis of congenital hypogonadotropic hypogonadism (CHH) remains elusive due to the phenotypic differences observed between mouse and human. Zebrafish (ZF) has emerged in the last ten years as a reliable model organism for studying...

The G protein-coupled receptor PROKR2 play an important and not fully understood role in GnRH-secreting neurons physiology. Indeed, mutations of PROKR2 in humans are known to cause Congenital Hypogonadotropic Hypogonadism (CHH) although with an important reproductive and olfactory phenotypic heterogeneity. The attempt to mimic PROKR2 human allelic variants in mouse model has so far failed to give insights into the mechanisms involved. The zebrafish (ZF), due to its amenability...

Background: Abnormal pubertal timing affects over 4% of adolescents and is associated with adverse health and psychosocial outcomes. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. However, despite this strong heritability, little is known about the genetic control of human puberty. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but in the majority of patients the neuroendocrine ...

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 111 members of 18 families fro...