Puberty, one of the most striking postnatal developmental processes, is characterized by accelerated skeletal growth, acquisition of secondary sexual characteristics, onset of fertility, and psychosocial maturation. However, the triggers of puberty and the complex interactions of this process with the metabolic system remain largely unexplained.  Recent genetic discoveries related to GnRH and metabolism have opened the door to shed new light on this biological paradigm.

Dr. Pitteloud’s research focuses on patients with congenitcal GnRH deficiency (congenital hypogonadotropic hypogonadism, CHH), a powerful disease model for understanding pubertal regulation.  When patients with CHH also have anosmia, the condition is termed Kallmann Syndrome. 

Genetic discoveries by Dr. Pitteloud’s group have shown the involvement of the fibroblast growth factor (FGF) pathway in the neuroendocrine control of reproduction by discovering that CHH patients harbor mutations in both FGF8 and FGFR1.  This has also lead to the exploration of FGF21 (a hormonal FGF) as a potential link between metabolism and reproduction. Previously, research on FGF21 has mostly focused on its effects as a peripheral metabolic regulator, yet recent studies show that pharmacological levels of FGF21 can also exert central effects on reproduction.

Keywords

• GnRH
• GnRH deficiency
• Puberty
• Fibroblast Growth Factor (FGF)
• Neuroendocrine control
• Reproduction