[Late diagnosis of Turner syndrome: therapeutic implications]
F J Candel González1, M Matesanz David, R Vivancos Velasco
1Servicio de Medicina Interna II, Hospital Universitario San Carlos, Universidad Complutense, Madrid.
Abstract:
We report the case of a patient with Turner's syndrome, whose special peculiarity is that its clinical signs have gone unnoticed despite the presence of several morphological features and functional disorders which must have induced it precociously. It's about a 58 years old patient with an aortic metalic valve in treatment with dicumarinics, who came to emergencies with a severe anemic syndrome because of a peptic ulcer propitiated by the hypoprotrombinaemia. In the physical examination some typical signs of the syndrome were detected. The karyotype verified the existance of Turner (45X0). We insist on the need of an early diagnosis, in order to prevent the short stature and to offer a satisfactory sexual development, and we include an actualization of the different approachments in the therapy and management of the disease.
More Related Videos
09:39Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
11:08Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
