By the editorial team of Turner Al Día.
The data. The 2024 international guideline recommends that follow-up for a woman with Turner syndrome should last a lifetime, and it devotes a specific section to the transition from paediatric to adult care. This is not decoration: the document insists that oestradiol and progesterone continue until the usual age of menopause, around 50 to 55, and that cardiovascular, thyroid, bone, hearing and metabolic monitoring does not stop when the patient is no longer “a child of the paediatric endocrinologist”. The guideline itself acknowledges that transition is a critical phase and that it must be planned, not improvised.
The data again. A review published in 2025 in the American Journal of Medical Genetics Part C by Nahata and colleagues describes the problem bluntly: although transition guidelines have been published by several national and international organisations, transition processes “have not been optimized” for populations such as Turner syndrome. The authors identify barriers at two levels — the health system and the individual and family — and call for research into Turner-specific transition interventions, training for teams, advocacy and policy change, and evidence-based strategies. In other words: the knowledge exists, but the pathway meant to apply it breaks just as the patient changes building.
Our opinion. Turner syndrome is, in practice, organised around childhood. There are paediatric endocrinologists, growth charts, school reviews and a clear story for families. At 18 that story ends and a vague territory begins, in which the patient has to find a cardiologist, a gynaecologist, an adult endocrinologist, an ophthalmologist and an ENT specialist on her own, often without a transition report explaining what was being monitored and why. We believe this is the most fragile point in the whole care system, and the cheapest to fix: a named adult referent, a transition clinic and a shared document require no new technology.
Our opinion, plainly. Late diagnosis deepens that fracture. When the syndrome is detected at 9, transition arrives with years of treatment and accumulated trust; when it is detected at 30, the patient enters the adult system directly, without ever passing through paediatric care, and often without a coherent account of what is happening to her. That is not a failure of patients or their families: it is a design failure. We argue that late diagnosis needs its own pathway — a long first appointment, written information and psychological support — and that transition should be assessed with indicators, not just good intentions.
What we are not saying. We do not claim that a single Spanish transition protocol exists, nor that every region gets it wrong: we have found no national registry that would let us sustain that, so we do not write it. What the cited sources do support is that transition is a critical phase, that guidelines include it, and that processes are not optimised. On that basis, the opinion is ours, and so is the signature.
Sources cited: Gravholt CH, Andersen NH, Christin-Maitre S, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol 2024;190(6):G53-G151. DOI: 10.1093/ejendo/lvae050. — Nahata L, Verlinde F, Stochholm K, Gutmark-Little I. Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success. Am J Med Genet C Semin Med Genet 2025;199(1):e32131. DOI: 10.1002/ajmg.c.32131.
