Turner Syndrome is a chromosomal disorder, which affects approximately 1 in 2500 live female births. It is associated with significant morbidity throughout childhood, adolescence and into adulthood. Quality of life is reduced in a significant number of females with Turner Syndrome due to lack of focused health care particularly during the transition from paediatric to adult services. The purpose of this study was to assess the health status and well being of a cohort of young people with Turner Syndrome who attended the paediatric endocrine services in the National Childrens Hospital.
Methods: Girls now aged 18 years and over who attended the paediatric endocrine service and who have been discharged to the adult services were identified. Twenty girls were contacted (AM) and requested to complete a questionnaire relating to their current health status, health perception, well-being and current medical care. Growth and clinical parameters were also documented.
Results: Of the 20 patients, 10 agreed to the completion of the questionnaire via phone. Six women failed to return the phone call and four patients were unavailable to complete the questionnaire.
Current age of this cohort ranged from 23 to 33 years. All girls who responded had been treated with GH therapy for a number of years (range 312 years). Mean final adult height was 151.3 cm (range 144.8158.8 cm). Mean adult weight was 56.8 kg with BMI ranging from 19.7 to 27.8 kg/m2.
Seven patients were being followed by adult endocrine services with two women attending the gynaecology services. One patient had never attended the adult services. Of note this patient had multiple non-attendances at paediatric clinic appointments also.
From a medical perspective, echocardiograms were abnormal in two females. Neither patient has follow up with cardiology services. All patients denied having hypertension or renal problems. Hypothyroidism was diagnosed in one female aged 28 years and coeliac disease in another at age 25 years. All patients denied having audiological deficits and 30% wore glasses but were unsure for what reason. Osteopenia was described in one patient. Oestrogen therapy was prescribed in 80% of patients.
From a social perspective, seven women achieved third level education with 50% of this group living independently away from their family environment. Interestingly, spontaneous pregnancy occurred twice in one individual. Most patients were satisfied with their quality of life and perceived their health to be good. Fertility issues were to the forefront for most of these girls whilst short stature posed little if any difficulty.
Conclusion: Although outcome in this group was surprisingly good, patient awareness of the morbidity in Turner Syndrome was poor overall. Most admitted to poor attendance at clinics. Patient education and knowledge is imperative to ensure reduction in morbidity and is enabled by establishing a shared philosophy between adult and paediatric services. Patient education and a smooth transition to comprehensive adult care is an integral part of the healthcare in Turner Syndrome.
05 - 07 Nov 2008
British Society for Paediatric Endocrinology and Diabetes