Endocrine Abstracts

JOINT3652

Background: Turner syndrome (TS) is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. TS is also associated with cognitive and psychosocial impairment

Objective: To describe the socio-demographic profile of adult patients with Turner Syndrome.

Patients and Methods: This was an observational case series with a retrospective chart review of 33 patients diagnosed with TS who are aged over 15 years. These patients were followed at the Farhat Hached University Hospital Sousse.

Results: The mean age of the patients was 25.6‡ 10.6 years, with a mean age at diagnosis of 16.3 ‡ 6.4 years. Chromosomal abnormalities were categorized as follows: monosomy X in 54.4%, solely structural abnormalities in 18.2%, and monosomy with structural abnormalities in 27.3%. Parental consanguinity was observed in 31.3% of the cases and was more frequent among patients with mosaicism. The mean maternal age at birth was 27.57 # 4.27 years, with advanced maternal age noted in only one patient. At the legal age of marriage, 88% of the patients were single, and 12% were married. Regarding educational attainment, 21.2% had completed primary education, 63.6% had completed secondary education, and 15.2% had attained higher education. A higher level of education was noted in patients with mosaicism (27.5% vs. 9.5% in those with homogeneous anomalies), although this difference was not statistically significant. Nine percent of the patients had hearing loss and used hearing aids, while only one patient exhibited cognitive decline.

Discussion: Patients with TS face a multitude of social challenges, including significant difficulties with interpersonal relationships and academic performance, which can profoundly impact their overall quality of life. Furthermore, some studies have emphasized the challenges these patients encounter in effectively identifying emotions and understanding the mental states of others. This inability can lead to misunderstandings in social interactions and can hinder the development of meaningful relationships. Additionally, specific learning difficulties, such as challenges with spatial reasoning or mathematics, are reported to be prevalent among individuals with TS. These factors necessitate not only a comprehensive approach to their medical care but also the establishment of a supportive and understanding social and educational environment conducive to their unique needs. Creating tailored educational programs that focus on emotional intelligence and social skills may significantly benefit patients as they navigate their educational and social landscapes.