Abstract
Background Turner Syndrome (TS) is the most common chromosomal abnormality seen in females and is often diagnosed in childhood. The transition of patients with TS from pediatric to adult providers is characterized by inconsistency. As such, limited data are available to assess long term health outcomes of women with TS.
Objectives: 1) To evaluate the long term health outcomes in women with TS followed at a single academic institution and 2) to establish clinical recommendations for evaluation, counseling, and planned transition of this population.
Methods: A retrospective pilot study was performed by examining medical records of women with TS who presented with short stature or delayed puberty and were diagnosed with TS on the basis of cytogenetic analysis. Patients with monosomy X, mosaic monosomy X, or X chromosome structural abnormalities consistent with TS or mosaic TS diagnosis were included. Medical records from an academic children’s hospital and an affiliated women’s hospital were reviewed.
Results: To date, 15 females aged 26-32 years were identified. Electronic records were available for 12/15 with age at diagnosis ranging from in utero to 15 years of age. Those with pediatric information available had documentation addressing use of growth hormone and pubertal hormone replacement therapies. Of the 12 patients, 11 had cardiac imaging performed; only one had an MRI. Consistent planned transition to adult health care providers was not evident. Of the 12 patients, 3 had consultation with a Reproductive Endocrinology and Infertility specialist; 3 had a diagnosis of anxiety or depression; 3 had a DEXA scan done (1 had osteopenia); 5 had dyslipidemia; and 2 developed insulin resistance.
Conclusions: This pilot study confirms heterogeneity in practice patterns and variable interactions of women with TS with the healthcare system, especially as patients enter adulthood. Although some women were referred to subspecialists, our initial data uncover patient uncertainty about healthcare and transition recommendations. Our preliminary data indicate the need for early patient education in a collaborative, multi-disciplinary fashion. We plan to validate and extend our initial findings by reviewing additional medical records. Ultimately, we plan for expanded education, consistent surveillance recommendations, and planned transition of patients with TS from pediatrics to adult caregivers.
Double Chromosomal Anomalies in Turner Syndrome: Rare Co-existence of Robertsonian Translocation with Monosomy X and Isochromosome XQ
