Patients with mutations in KISSIR (kisspeptin receptor) gene present with delayed puberty and no apparent associated conditions. Previous studies show that the kisspeptin – KISSIR system may play an important role in GNRH secretion during fetal development in utero.

Teles et al. report the results of their investigation of KISSIR gene defects in a cohort of 99 Brazilian patients with normosmic isolated hypogonadotropic hypogonadism (nIHH) or constitutional delay of puberty (CDP).

They found one novel homozygous KISSIR mutation in two siblings with nIHH. The brothers who carried this mutation had no clinical evidence of pubertal development at the ages of 14 and 20 years. Computational analysis of this indel mutation predicted the generation of an abnormal protein. Furthermore they identified only known polymorphisms in patients with CDP. They concluded that loss-of-function mutations of KISSIR represents a rare couse of nIHH and was absent in patients with CDP. They also describe a novel KISSSIR homozygous splice acceptor site mutation in the familial form of nIHH. Teles, GM et al (2010), European Journal of Endocrinology.

DOI: 10.1530/EJE-10-0012