Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Abstract

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.

Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience

“…As in other studies [1,24,25], bone density in half of the investigated women from our TS group was strongly decreased, corresponding to the low estrogen exposure. Current European guidelines recommend sufficient calcium intake, avoidance of vitamin D deficiency, and monitoring of bone density every five years in patients with TS or more frequently in case of estimated abnormalities [4,28]. HRT is needed until the physiological age of menopause not only for the prevention of bone loss but also for improving the cardiovascular and sexual health of TS women [4,28].…”

Facilitating the transition from paediatric to adult care in endocrinology: a focus on growth disorders

“…Guidelines and recommendations to facilitate the transition of AYAs with Turner syndrome have been updated in the last 2-3 years [31,33,34,38], but studies suggest that women with Turner syndrome continue to be unprepared for transition [39,40]. Low confidence regarding independence in self-management is one reported factor [41 & ].…”

“…Transition tools specific to Turner syndrome are noted in Table 1. It is ideal to transfer care to an adult medical team familiar with the preventive management needs of women with Turner syndrome [34]. This usually includes a multidisciplinary centre with endocrinology, cardiology, audiology, gynaecology, nutrition and behavioural medicine.…”

“…Oestrogen replacement therapy should be continued in women with Turner syndrome until the average age of menopause for bone, cardiovascular and neurocognitive benefits [42]. Screening guidelines for adults with Turner syndrome recommend screening for diabetes, autoimmune thyroid dysfunction, osteoporosis, dyslipidaemia, as well as counselling on healthy diet and exercise [34,43]. Even before adulthood, AYAs with Turner syndrome should be counselled on the decreasing likelihood of achieving spontaneous pregnancy with increasing age.…”

Pubertal induction in Turner syndrome without gonadal function: A possibility of earlier, lower-dose estrogen therapy

“…Publications before 2016 were summarized in one of the Tables of reference 3. Table 1 in the present monograph summarizes the relevant points of studies published in 2016 or later (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14); some of these focused on using transdermal 17b estradiol (E2), while others were more practical in their recommendations. As seen in Table 1, most expert opinions and guidelines from around the world agree on the following points regarding induction therapy in TS without endogenous estrogen production:…”