Genotype analysis of the neuropeptide Y (NPY) Y1 and NPY Y5 receptor genes in gonadotropin-releasing hormone-dependent precocious gonadarche

To test whether GnRH-dependent precocious puberty (precocious gonadarche) is associated with loss-of-function mutations in the genes encoding the NPY Y1 and Y5 receptors, we used single-stranded conformation polymorphism analysis to assess for mutations in 15 patients with precocious gonadarche (mean age, 6.84 ± 2.07 years) and in 72 controls. Although variants were not identified in the NPY Y1 receptor gene, 4 patients and 20 control subjects carried a G→A transition resulting in a silent variant, G426G, suggesting that NPY Y1 and Y5 receptor variants do not play a major role in our patient population.