On 15 May 2024, the European Journal of Endocrinology published the new clinical practice guideline for the care of girls and women with Turner syndrome. This is not just another research paper: it is the reference document signed jointly by the European Society of Endocrinology (ESE), the Pediatric Endocrine Society (PES), the European Society for Paediatric Endocrinology (ESPE), ESHRE and nine other scientific societies, through the International Turner Syndrome Consensus Group, coordinated by Carsten H. Gravholt. It runs from page G53 to G151 of volume 190 and replaces the 2017 guideline: the first revision in seven years.
The first significant change sits at the doorway to diagnosis. The guideline states that the first-line test should be chromosome analysis counting a minimum of thirty metaphases, not a lower count. When non-invasive prenatal testing (NIPT) indicates a high risk of Turner syndrome, the document asks for a detailed ultrasound and an offer of invasive diagnostic testing, rather than treating the screening result as a final diagnosis. These are technical decisions, but they have direct consequences: fewer incomplete diagnoses and fewer false certainties during pregnancy.
On hormones, the guideline sets the timetable. Growth hormone treatment can start early, from as young as two years of age if there are already signs of growth failure or short stature, with IGF-I and height monitored on specific charts. Between the ages of 8 and 9, and every year until 11 or 12, LH, FSH and anti-Müllerian hormone (AMH) should be measured. If FSH is elevated on two consecutive measurements, low-dose oestradiol is recommended from 11 to 12 years of age, preferably transdermally, with the dose increased slowly to adult replacement over two to four years. Micronised progesterone, 200 mg for 10 to 12 days a month, is added once breakthrough bleeding occurs, and treatment continues until the usual age of menopause, around 50 to 55.
Fertility is no longer a topic left for the end. The guideline recommends measuring AMH from diagnosis, discussing family-building options in an age-appropriate way and, for those who have reached menarche and have fertility potential, offering ovarian stimulation with oocyte cryopreservation as the primary preservation option, always in centres with experience of Turner syndrome and with psychosocial support. Ovarian tissue cryopreservation is restricted to studies with ethics committee approval, and is not offered to pre-pubertal girls outside that framework.
The heart and adult life close the document. From the age of 15, aortic dilation should be characterised using specific indices (AHI, ASI or z-scores), and blood pressure management is adjusted to that dilation, with beta-blockers or angiotensin receptor blockers. The guideline also sets out exercise restrictions according to the degree of dilation and reminds readers that follow-up is lifelong: eyes, hearing, oral health, sleep apnoea, kidneys, diabetes, liver, coeliac disease, bone, thyroid, and cognitive and psychosocial screening. It also includes specific recommendations on the transition from paediatric to adult care. For families, the practical message is that the diagnosis does not change, but the calendar of what needs watching, and when, does.
Source: Gravholt CH, Andersen NH, Christin-Maitre S, et al.; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome. European Journal of Endocrinology 2024;190(6):G53-G151. DOI: 10.1093/ejendo/lvae050.
Original document: academic.oup.com/ejendo/article/190/6/G53/7674241
