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

Abstract

Background: Turner syndrome (TS) is a well-known genetic condition associated with increased morbidity and mortality in adult patients. Accordingly, comprehensive guidelines for TS follow-up across the lifespan have been developed. However, the data about their implementation in clinical practice need to be expanded. The present study aims to describe a cohort of adult East-European TS patients and to highlight pitfalls in long-term medical care. Methods: Data from 45 TS women (18–53 years) were included in the present retrospective study. Personal history of the patients along with anthropometric, cytogenetic, clinical, and laboratory parameters were collected. Results: The median age of initial diagnosis was 15 years varying between one and forty-nine years, with nearly one-third of patients being diagnosed as adults. TS women treated with growth hormone during childhood were, on average, 5 cm taller than the non-treated patients (150.00 [147.00–155.00] vs. 145.00 [140.25–150.75], p = 0.055). Patients on hormone replacement therapy (HRT) had higher high density lipoprotein (HDL) cholesterol levels (1.80 mmol/L [1.44–1.99] vs. 1.55 mmol/L [1.31–1.74], p = 0.041) and lower follicle-stimulating hormone levels (33.70 IU/L [23.65 – 65.07] vs. 70.00 IU/L [46.90–79.39], p = 0.008) compared to non-treated women. Adherence to HRT was suboptimal, with only 55.6% of hypogonadal women being on hormonal treatment. The presence of comorbidities was increased as expected, but the percentage of hypertensive TS patients was lower than usually reported (11.1%). Conclusions: Growth hormone and estrogen replacement therapy might exert different positive effects on TS patients. However, the late diagnosis of TS and low adherence to treatment could limit the beneficial hormonal effects. A tendency for a more accurate diagnosis of concomitant endocrine diseases compared to non-endocrine conditions in TS patients has been observed. These results support the need for dedicated multidisciplinary teams focused on TS diagnosis and adult follow-up worldwide.

Keywords

• turner syndrome
• hypogonadism
• disorders/differences in sex development (dsd)
• growth hormone therapy