ESPE Abstracts

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...

Background: Gonadal dysgenesis may be rarely associated with precocious puberty (PP) and development of gonadoblastoma. In these patients cases of peripheral PP have been reported. On the contrary, a central PP has been very rarely described.Objective and hypotheses: To describe a female with central PP associated with a bilateral gonadoblastoma.Results: A 8 year and 5 month old phenotypically female child, presenting suspected PP ...