Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic

Abstract

Objectives: Turner syndrome (TS), resulting from complete/partial X chromosomal monosomy, is associated with multiple co-morbidities and increased mortality. Although multidisciplinary management is recommended, TS women’s health care is sub-optimal. This study evaluates a multidisciplinary adult TS service.

Methods: Retrospective cohort study of 82 patients attending the quarterly TS clinic from December 2003 to December 2014. Evaluation included (1) demographics, (2) TS standardized co-morbidity screening, and (3) estrogen therapy use. Data analysis involved frequency statistics, T tests and polychoric correlation analysis.

Results: Median age at TS diagnosis was 14 years (range 0–65 years), with 12% of women aged >18 years. Median age at initial consultation was 31 years (range 16–65 years). Only 14% of patients were transition program referrals. XO karyotype occurred in 30%. Primary amenorrhea predominated; however, 37% of TS women were not taking estrogen therapy. The proportion of patients not previously screened (44–76%) and those with positive screening diagnoses (5–53%) varied according to co-morbidity. The mean (± standard deviation) number of co-morbidities identified increased following TS clinic screening (7.0 ± 2.6 post-screening vs. 4.4 ± 2.3 pre-screening; p < 0.0001). Polychoric correlation analysis identified particular co-morbidity groupings (including metabolism-related) and increased co-morbidities with primary amenorrhea.

Conclusion: A multidisciplinary adult TS clinic improves health surveillance with increased identification of co-morbidities and initiation of estrogen therapy.

Keywords:

• Turner syndrome
• morbidity
• hormone replacement therapy
• screening
• multi-disciplinary

Conflict of interest

Part of this work was presented as a poster at the International Forum on Healthcare and Safety: Asia, held in Hong Kong, September 29–30, 2015 and at the US Endocrine Society meeting held in Boston, MA, USA, April 1–4, 2016. AV is on the Editorial Board of Climacteric.

Source of funding

Nil.