Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism.

Mariam MoallaFaten Hadj KacemAbdullah Fahad Al-MuteryMona MahfoodNabila Mejdoub-RekikMohamed AbidMouna Mnif-FekiHassen Hadj Kacem

Published in: Journal of assisted reproduction and genetics (2019)

Our study highlights the importance of the KISS1R signaling, in gonadotropin-releasing hormone neurons, in the control of reproductive function. Additionally, our data suggests a complex central and peripheral metabolic control of puberty, through the hypothalamic KISS1R signaling. We suggest a mutual link between the hypothalamic-pituitary-gonadal, -adrenal, and -somatotropic axes.

Keyphrases

spinal cord
electronic health record
big data
genome wide
copy number
replacement therapy
binding protein
transcription factor
artificial intelligence