ESPE Abstracts

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by GnRH deficiency. It is characterized by absent or incomplete puberty with infertility due to inadequate secretion of LH and FSH. Inactivating mutations in KISS1R is transmitted as a recessive trait. It is also known as the GPR54 gene, and encodes a G-protein-coupled receptor or receptor for kisspeptins. The binding of kisspeptin to these receptors in the hypo- thal...

Introduction: Kenny-Caffey syndrome is a rare syndrome which is a primary bone dysplasia syndrome consisting of growth retardation with proportionately short stature, cortical thickening and medullary stenosis of the long bones, hypocalcemia from congenital hypoparathyroidism, and facial dysmorphism such as a prominent forehead, microphthalmia, and micrognathia. We report 13 years old with Kenny caffe syndrome who found to have a family history of the same pre...