ESPE Abstracts

Infertility affects one in six couples in the UK. Identification of novel factors which are critical to reproductive function could lead to improved therapies for infertility. Kisspeptin has been identified as a key regulator of the reproductive system. Defective kisspeptin signalling causes a failure of reproductive hormone release (hypogonadotrophic hypogonadism) in rodents and man leading to a failure to go through puberty. My group have determined the effects of kisspeptin...

Introduction: Pathogenic MC4R gene variants result in hyperphagia and early onset obesity, but puberty is not usually affected. A 16-year-old male with repaired Tetralogy of Fallot, anosmia, autism, and anxiety, was referred with delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had high-arched palate, normal skin and hair colour, mild hypertelorism, Tanner stage A2P1G1, 5ml testes.Results: Gn...