Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Descriptive analyses of Turner syndrome: 49 cases in Tunisia
Annales d'Endocrinologie, Volume 71, No. 2, Year 2010
Notification
URL copied to clipboard!
Description
Turner syndrome is linked to the absence or abnormality of one of the X chromosome leading to haplo-insufficiency of genes involved in the development and maintenance of the ovarian stock in women. We report the results of a 21-year retrospective study, conducted in 49 patients with Turner syndrome. The purpose of this study was to establish the clinical, hormonal, cytogenetic and evolutive pattern of a Tunisian population with Turner syndrome and to search for correlations between genotype and phenotype. The average age of our patients at diagnosis was 14. years (1. day-42. years). Twenty-four percent of them were diagnosed in adulthood (greater or equal to 20. years). Turner syndrome was diagnosed later in the case of mosaicism (P=0.001). Short stature was present in 85% of cases; it was more frequent among the youngest and monosomics. The dysmorphic syndrome was observed in 85% of cases; it was significantly more frequent in monosomics (P=0.003). Delayed puberty was present in 62.4% of cases, it was almost constant in monosomics (P=0.05). The loss of ovarian function was more severe in case of monosomia compared to other forms (P=0.04). Our results report a high frequency of autoimmune diseases (18/46 cases) including dysthyroidism (eight cases). Hepato biliary affections were more frequent in mosaicism compared to monosomy. The average final height was greater even in mosaicism estimated at 150.5. cm compared to 141. cm in monosomics and 138.8. cm in mosaics with abnormal structures. © 2010 Elsevier Masson SAS.
Authors & Co-Authors
Elleuch, Mouna
Tunisia, Sfax
Chu Hedi-chaker
Mnif, Mouna Feki
Tunisia, Sfax
Chu Hedi-chaker
Kammoun, Mahdi H.
Tunisia, Sfax
Chu Hedi-chaker
Charfî, Nadia
Tunisia, Sfax
Chu Hedi-chaker
Rekik, Nabila Mejdoub
Tunisia, Sfax
Chu Hedi-chaker
Bouraoui, Amira
Tunisia, Sfax
Chu Hedi-chaker
Kammoun, Thouraya H.
Tunisia, Sfax
Chu Hedi-chaker
Belguith, Neila
Tunisia, Sfax
Faculty of Medicine of Sfax
Kammoun, Hassen
Tunisia, Sfax
Faculty of Medicine of Sfax
Sfar, Mohammed Tahar
Tunisia, Monastir
Chu Fattouma-bourguiba
Hachicha, Mongia T.
Tunisia, Sfax
Chu Hedi-chaker
Abid, Mohamed Salah
Tunisia, Sfax
Chu Hedi-chaker
Statistics
Citations: 12
Authors: 12
Affiliations: 3
Identifiers
Doi:
10.1016/j.ando.2009.12.013
ISSN:
00034266
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study
Cohort Study
Study Locations
Tunisia
Participants Gender
Female