Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40–50%) and the 45,X/46,XX mosaic karyotype (15–25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.

Objective: To describe in a real-life setting the treatment burden and adherence, and quality of life of children treated with daily injections of growth hormone, and their relationship with treatment duration. Design: This non-interventional, multicenter, cross-sectional French study involved children aged 3 to 17 years treated with daily growth hormone injections. Methods: Based on a recent validated dyad questionnaire, the mean overall Life Interference total score (100=most interference) was described, with treatment adherence and quality of life (QOL) using the Quality of Life of Short Stature Youth questionnaire (100=best). All analyses were performed according to treatment duration prior to inclusion. Results: Among the 275/277 analyzed children, 166 (60.4%) had only growth hormone deficiency (GHD). In the GHD group, mean age was 11.7±3.2 years; median treatment duration was 3.3 years (IQR 1.8-6.4). The mean overall Life Interference total score was 27.7±20.7 (95% CI [24.2;31.2]), with non-significant correlation with treatment duration (p=0.1925). Treatment adherence was good (95.0% of children reported receiving >80% of planned injections over the last month); it slightly decreased with treatment duration (p=0.0364). Children overall QOL was good: 81.5±16.6 and 77.6±18.7 according to children and parents, respectively, but sub scores of the coping and treatment impact domains were <50. Similar results were observed in all patients independently of the condition requiring treatment. Conclusions: This real-life French cohort confirms the treatment burden of daily growth hormone injections, as previously reported in an interventional study.

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