ESPE Abstracts

Minipuberty, a transient activation of the hypothalamic-pituitary-gonadal (HPG) axis during early infancy, plays a critical role beyond reproductive development. Recent evidence suggests that minipuberty, in addition to facilitating the process by which the capacity for sexual reproduction is achieved and maintained, may also influence neurodevelopmental programming and the maintenance of sensory (e.g., olfaction and hearing) and cognitive performance throughout life. During m...

Central precocious puberty (CPP) is defined by the premature development of secondary sexual characteristics due to the early reactivation of pulsatile hypothalamic gonadotropin-releasing hormone (GnRH) secretion. Characteristically, the overall frequency of CPP is much higher in girls than in boys. Loss-of-function mutations in two maternal imprinted genes (MKRN3 and DLK1) have been identified as the most frequent etiologies of familial CPP, indicating an es...

Gonadotropin releasing hormone (GnRH) neurons embryonically originate in nasal placode and migrate to hypothalamus, where they release GnRH to control reproduction. Defective GnRH neuron development or function leads to GnRH deficiency (GD), which is often associated to neurodevelopmental and neurological syndromes, including epilepsy, ataxia, intellectual disabilities and deafness. In addition, a register-based study showed correlation between delayed puberty and neurodevelop...