Abstract
An: 2010, Nr.2, Articol Nr. 17
Title: 

CLINICAL AND GENETICALLY CORRELATIONS ON A FEMALE GENDER PATIENT WITH TURNER SYNDROME. A CASE REPORT

Authors: 

      S.I. Toma, L. Onisai, C.L. Bold - ““Transilvania”” University from Brasov, Faculty of Medicine, Department of Morfological and Surgical Specialities
      CLINICAL AND GENETICALLY CORRELATIONS ON A FEMALE GENDER PATIENT WITH TURNER SYNDROME. A CASE REPORT (Abstract): Introduction: Monosomic 45X0 Syndrome was described by Turner in 1938 as a distinct entity. Clinical signs are different from puberty point of discution: before and after puberty due to phenotipic expression of missing X sexual chromosome. Turner Syndrome belongs to the class of syndromes described by anomalies of the sexual chromosomes – in this case with modified female phenotipe. Aim: This paperwork is based on tracking and evaluation a case of Turner Syndrome diagnosed and hormonally replaced from the age of 14. Method and Material: Turner Syndrome is caused by total absence of one X chromosome from one or all clones from the organism. Trusted methods of diagnosis are: kariotype and Barr tests for sexual chromatine. The 52 years pacient was diagnosed in 1958 with succesful otomastoidian bilateral surgery and in 1971 with Turner Syndrome, bilateral deffness, speaking problems, stage II of hypertension, congenital medial aortic stenosis, left ventricle insufficiency class II, mixt dislipedemy and left humerus fracture in 2005. Turner Syndrome diagnosis was confirmed in January 1971. The pacient went to the Hospital for clinico-endocrinologic evaluation and investigations. Results and conclusions: The syndrome is recognised from tipical manifestations: delayed growth, gonadal dysgenesis, pterygium colli and lymphedema. The case particularity is the favorable clinico-biological evolution after temporary (10 years) hormonal substitution after the age of 14.
Key words: TURNER, X CHROMOSOME, TEMPORARY HORMONAL SUBSTITUTION
archive
Current edition
2021
Previous editions