ESPE Abstracts

Introduction: urner's syndrome (TS) is a rare genetic disorder related to the total or partial absence of an X chromosome, affecting 1/2 500 newborns of female sex. It associates almost steadily a delay in stature and ovarian failure with infertility.The other anomalies are inconstant: morphological features of variable intensity, associated malformations and an increased risk of subsequent acquired diseases.The diagnosis of certainty is established after ...

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland responsible for pituitary insufficiency. Its prevalence is unknown but about 1000 cases have been reported to date. It is characterized by a triad associating a very fine or interrupted pituitary stalk, an ectopic posthypophysis (PH) or absent and a hypoplasia of the anterior pituitary, visible on the MRI. The etiology of PSIS remains unknown.<p cla...