MANAGEMENT OF ENDOCRINE DISEASE: transition of care for young adult patients with Turner syndrome
Open accessAbstract
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.
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Most transition-related research in AYA with TS and other endocrine conditions has focused mainly on the number of follow-up appointments and/or drop-out of care.
“Most transition-related research in AYA with TS and other endocrine conditions has focused mainly on the number of follow-up appointments and/or drop-out of care.538,547”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [538]
In a study of French women with TS, a significantly greater proportion of those without organized transition were lost to follow up.
“In this study, a significantly greater proportion of those without organized transition were lost to follow up. Organized transition was defined as having been referred directly from pediatric endocrinology care, while those without organized transition were individuals referred by their general practitioner, gynecologists, or self-referred.538”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [538]
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- Authors
- Bernard, V., Donadille, B., Le Poulennec, T., Nedelcu, M., Martinerie, L., & Christin-Maitre, S.
- Affiliations
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- 1Service d’Endocrinologie et Maladies de la Reproduction, Centre constitutif du centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement (CMERCD), Assistance Publique – Hôpitaux de Paris, Hôpital Saint-Antoine, Paris, France
- 3Service d’Endocrinologie Pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement (CRMERCD), Hôpital Robert Debré, Assistance Publique – Hôpitaux de Paris, Paris, France
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2019-01
- Volume
- 180
- Issue
- 1
- Pages
- R1-R7
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- OpenAlex
- W2897345403
- Cited by
- 18
- References
- 39
- Citations by year
- 2025: 3 · 2024: 4 · 2023: 2 · 2022: 2 · 2021: 3 · 2020: 3 · 2019: 1
- FWCI
- 3.07
- Type
- journal article
- Language
- en
- Open access
- Licence
- other-oa
- Locations
- European Journal of Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- Topics
- Health Sciences › Health Professions › Speech and Hearing › Adolescent and Pediatric Healthcare
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, care transitions, young adult patient, adolescent patient, loss to follow-up, family involvement, patient associations, educational programs, neuropsychological profile, anxiety, psychological support, transition to adult care
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