ESPE Abstracts

Background: Mucopolysaccharidosis 6 (MPS6) (or Maroteaux–Lamy syndrome) is a rare genetic disease characterized by progressive systemic disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase which causes an accumulation of dermatan sulfate (DS). It is due to mutations in the BRSA gene, located on chromosome 5. In severe cases, the accumulation of DS in the body cells occurs mainly in bones, joints, eyes, heart and brain. Its association with anterior...

Background: Ovarian tumors are rare in the pediatric age and are represented primarily by functional cysts and benign tumors, the most common is the mature teratoma.Objective and hypotheses: Assess clinical, radiological, etiological and scalable characteristics of ovarian tumors in the pediatric age.Method: Retrospective study of seven cases of ovarian tumors collected over a period of 20 years. All children received complete clin...

Background: Central precocious puberty (CPP) in girls is characterized by an activation of the hypothalamic–pituitary–ovarian (HPO) axis before 8 years of age. Given the gradual awakening of the GnRH pulse generator, a spectrum of presentations has been found among girls with premature sexual development. CPP are not easily distinguished from idiopathic precocious thelarche (PT) or other intermediate positions along this spectrum. The GnRH test is the gold standard t...