Searchable abstracts of presentations at key conferences in endocrinology

ea0038p374 | Reproduction | SFEBES2015

A rare form genetic abnormality in Turner syndrome

Costache-Outas Mariana-Cristina , Procopiuc Camelia , Popa Oana , Vintila Madalina-Aura , Costache Cosmina-Raluca , Stambouli Danai

Turner Syndrome (TS) is defined as the combination of characteristic physical features in phenotypic females and complete or partial absence of the second sex chromosome. Short stature is a constant clinical finding in patients with TS. We report the case of a 18 year old female with TS and normal stature. Primary amenorrhea was the reason for the first clinical presentation. Laboratory evaluation showed hypergonadotropic hypogonadism, low oestrogens and testosterone. A pelvic...