Evaluation of clinical and laboratory monitoring, mental health, and quality of life in adolescent and young women diagnosed with Turner syndrome

Postgraduate Thesis uoadl:2943160 81 Read counter

Unit:
Κατεύθυνση Έρευνα στην Γυναικεία Αναπαραγωγή
Library of the School of Health Sciences
Deposit date:
2021-04-19
Year:
2021
Author:
Kakouri Eleni
Supervisors info:
Χριστίνα Κανακά - Gantenbein, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Σταυρούλα Μιχαλά, Επίκουρη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Γεωργία Ντάλη, Επιμελήτρια ΕΣΥ, ΓΝΑ Ευαγγελισμός
Original Title:
Αξιολόγηση κλινικοεργαστηριακής παρακολούθησης, ψυχικής υγείας, και ποιότητας ζωής εφήβων και νέων γυναικών με σύνδρομο Turner
Languages:
Greek
Translated title:
Evaluation of clinical and laboratory monitoring, mental health, and quality of life in adolescent and young women diagnosed with Turner syndrome
Summary:
Objective: Turner Syndrome (TS) is associated with a variety of morbidities affecting nearly every organ and system, and necessitates multidisciplinary management. The research purpose of this study is to investigate whether the clinical and laboratory monitoring of women with TS is adequate and in accordance with international medical guidelines. In addition, to assess the mental health and quality of life of these women, to determine if the syndrome affects them negatively.
Material and Method: The study involved 19 women, aged 15-61 years, diagnosed with TS. The study population consisted of patients’ data retrieved from their medical records in “GNA Alexandra” during the years 2015-2018. Psychometric tools-questionnaires (WHOQOL-BREF, HADS, STAI, DASS-21) were used for collection of additional data. Simultaneously, the same questionnaires were given to a random sample of 30 women, aged 15-50 years, representing the healthy population with a normal karyotype. Statistical analysis was carried out using SPSS v.25 along with Microsoft Excel. The women with TS were identified from hospital databases, and the data were extracted from their records and compared with the proposed international recommendations. Psychometric tools-questionnaires (WHOQOL-BREF, HADS, STAI, DASS-21) were used to assess mental health and quality of life. At the same time, these questionnaires were also given to a sample of healthy women, aged 15-50 years, representing the control group with a normal karyotype. The statistical processing of the data was done with the program SPSS v.23 in combination with Microsoft Excel.
Results: The average height and weight of the identified participants was 150 ± 6.48 cm and 58± 9.59 kg respectively. 75% of the patients with reported data had been treated with GH treatment before the age of 13, and just 8% had induction of puberty at age 11-12 years. Only 11% of patients had had a 5-yearly audiometric evaluation and a dental/orthodontic evaluation. 83% of them had undergone at least one transthoracic echocardiography or CT/cardiac magnetic resonance scan. 33% had an annual assessment of blood pressure, while 63% had been evaluated by a dual energy x-ray absorptiometry (DXA) scan and 74% had a neuropsychological/ behavioural assessment. Thyroid function was annually screened in 42% of the women, HbA1c +/- Gl in 44%, lipid profile in 63% and liver function in 47%. Serum 25-OH-VitD levels were measured every 2-3 years in 47%, and a screening for coeliac disease antibodies had been performed in 32% of the patients.
The assessment of mental health and quality of life with the given questionnaires showed statistically significant differences in the levels of stress, anxiety and depression, characteristic anxiety, total quality of life as well as the dimensions of physical and psychological health and the environment, where patients had a lower score on mental health (stress, anxiety, depression, characteristic anxiety) and a higher score on quality of life compared to the healthy control group. There was also a statistically significant and negative correlation (r = -0.536, p = 0.018) between age and characteristic stress. The investigation of the effect of marital status, educational level, professional employment, and genotype did not show a statistically significant difference (p> 0.05).

Conclusions: A significant proportion of TS women may miss health checks proposed by the international guidelines. This highlights the need for a better care plan strategy to engage and motivate these women for lifelong follow-up, in order to optimise their quality of life and reduce their comorbidities. However, their mental health and overall quality of life are not significantly affected by TS.
Main subject category:
Health Sciences
Keywords:
Turner Syndrome, HRT, Quality of life, Mental health
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
75
Number of pages:
78
File:
File access is restricted only to the intranet of UoA.

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