Quality of Medical Follow-Up of Young Women with Turner Syndrome Treated in One Clinical Center

Abstract

For Turner syndrome (TS) patients, smooth transition from pediatric to adult health care is a critical point. The study objective was to evaluate the medical follow-up of young women with TS in one clinical center 3 years after the latest guidelines had been introduced by the TS Study Group. A questionnaire study was performed in 59 TS adults selected from a database of 117 patients. Twenty-two of them, aged 23.0 ± 2.8 years, consented to participate. Nineteen responders (86.4%) were followed up by general practitioners who were not aware of the TS diagnosis in 14 (63.6%) cases. Eight (36.4%) were seen regularly by the relevant specialists. Adequate medical assessment varied from 5% (celiac serology) to 74% (gynecology assessment) and 82% (ear-nose-throat) of participants. None of the patients had undergone all of the recommended investigations according to recommendation. Height deficiency, body mass index, age at TS diagnosis and level of education did not correlate with the number of assessments performed (p = 0.687, p = 0.810, p = 0.641, and p = 0.568, respectively). Three years after the introduction of the current guidelines, medical follow-up in the transition phase is still inadequate. Improvement in transitional health care is warranted through better patient education, referring to physicians caring for adults with TS and better cooperation with general practitioners with wider popularization of the TS recommendations among them.

Care of girls and women with Turner syndrome: beyond growth and hormones

“…The chances for a successful transition are decreased in some chronic conditions, including TS, because it is difficult to find experts in adult care (81). Young women with TS are furthermore seldom fully aware of their conditions (82, 83). In adult life, less than 4% of patients with TS undergo all the recommended medical investigations on a regular basis (84).…”

Prediction of Spontaneous Puberty in Turner Syndrome Based on Mid-Childhood Gonadotropin Concentrations, Karyotype, and Ovary Visualization: A Longitudinal Study

“…It is recommended that women with TS should receive oestrogen and progestin replacement, known to have long-term effects on puberty, fertility, metabolism, and psychological functioning [4,5]. However, patient compliance with treatment is often variable, especially during late adolescence, when transition to adult care is being planned [6]. The international consensus is to initiate oestrogen therapy at the age of 12 years in the absence of spontaneous puberty and if follicle-stimulating hormone (FSH) levels are elevated.…”

TRANSITION IN ENDOCRINOLOGY: Treatment of Turner's syndrome during transition

“…Both clinical (78,80,122) and questionnaire studies (118,119) revealed that cardiovascular monitoring for TS was insufficient. All girls and women with TS require comprehensive cardiovascular evaluation to diagnose congenital heart diseases and hypertension and to exclude long-term consequences of childhood GH treatment on aortic structures or function.…”

“…According to a French study, blood glucose was one of the most common medical follow-up assessments in the young population (118). By contrast, screening for celiac disease by measuring tissue tTg IgA antibodies was the least common test (119). (93,95).…”