ESPE Abstracts

Background: Precocious puberty is defined as the onset of pubertal signs in girls younger than 8 years of age and in boys younger than 9 years of age. Central precocious puberty is due to an early activation of the hypothalamic-pituitary-gonadal axis. Different candidate genes were involved in the etiology of the disease. To date, mutations in the maternally imprinted gene MKRN3 are most frequently found in families with CPP.Objective and hypotheses: The...

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a very rare recently delineated disorder with Dandy-Walker malformation, congenital heart defects and dysmorphic craniofacial features; however, the full spectrum of this disorder has not been determined.Objective and hypotheses: To present a patient with short stature and growth hormone (GH) deficiency as a part of the clinical manifestations of Ritscher-Schinzel syndrome.<p class="abstext...