MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome

Valérie Bernard (1, 2, 3) , Bruno Donadille (1) , Tiphaine Le Poulennec (1, 2, 3) , Mariana Nedelcu (1) , Laetitia Martinerie (4, 5) , Sophie Christin-Maitre (1, 2, 3)

1 CHU Saint-Antoine [AP-HP]
2 SU FM - Sorbonne Université - Faculté de Médecine
3 U933 - Maladies génétiques d'expression pédiatrique
4 Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré]
5 IDS - U1145 - Institut Droit et Santé

Turner syndrome (TS), affecting 1/2000 to 1/2500 live born girls, is a chromosomal aberration with a total or partial loss of one of the X chromosomes. The diagnosis can be established from the intra-uterine life to adulthood. TS is a chronic disease with particular morbidity and mortality. The loss to follow-up rate, during transition, between children and adult units, remains a crucial issue. This review focusses on the adolescent and young adult patients with TS. The different goals of TS transition are presented as well as some of the tools available in order to improve this transition. The involvement of the patient’s family, advocacy groups and therapeutic educational programs are discussed. A specificity concerning TS transition, as compared to other chronic diseases, relies on the fact that patients with TS may present a peculiar neurocognitive profile. They are in general more anxious than the general population. Therefore, psychological support should be offered to optimize transition. Data illustrating the beneficial impact of an organised transition of TS, from paediatric units to multidisciplinary adult care systems, within the same reference centre are presented. Further studies are required to evaluate the mid-to-long-term transition of paediatric patients with TS referred to adult units.

Mots clés: Turner syndrome; Karyotype; Transition; Rare disease

Domaines: Endocrinologie et métabolisme

Valérie Bernard, Bruno Donadille, Tiphaine Le Poulennec, Mariana Nedelcu, Laetitia Martinerie, et al.. MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome. European Journal of Endocrinology, 2019, 180 (1), pp.R1-R7. ⟨10.1530/EJE-18-0238⟩. ⟨hal-02948831⟩