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

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

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.

Related collections

Most cited references 6

Record: found
Abstract: found
Article: not found

Autoimmune thyroid syndrome in women with Turner's syndrome--the association with karyotype.

M Elsheikh, J A H Wass, G S Conway (2001)

Females with Turner's syndrome (TS) are at an increased risk of developing autoimmune thyroid disease. Studies assessing the influence of karyotype on thyroid autoimmunity in adults with TS have yielded conflicting results but have been limited by small numbers. The aim of this study was to determine the frequency of thyroid autoimmunity in a large cohort of women with TS and to assess the influence of karyotype on the development of thyroid disease. Data were available for 145 women with TS attending a dedicated adult Turner clinic. The mean age was 26 years (range 16-52 years). Information regarding the presence of thyroid disease, karyotype, thyroid autoantibodies and thyroid function was recorded in all. The chi-squared test with Yates' correction was used to assess the association between karyotype and thyroid autoimmunity. Forty-one per cent of women with TS had positive thyroid autoantibodies and 16% of women were hypothyroid on replacement therapy with thyroxine. However, 83% of women with an X-isochromosome had positive thyroid autoantibodies compared with 33% of women with other karyotypes (P < 0.0001). Women with an isochromosome-X karyotype were also significantly more likely to become frankly hypothyroid and require thyroxine compared with other karyotypes (37.5% isochromosome-X vs. 14% 45, X vs. 6% other karyotypes P = 0.0034). In this large cohort of women with TS we have shown that the risk of developing autoimmune thyroid disease is particularly high in women with an X-isochromosome, suggesting that a gene on the long arm of the X chromosome (Xq) may play an important pathogenetic role in the development of autoimmune thyroid disease.

0 comments Cited 40 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: found

Health and Psychosocial Status of Patients with Turner Syndrome after Transition to Adulthood: The Belgian Experience

F Verlinde, G. Massa, K Lagrou … (2004)

Background: Most girls with Turner syndrome (TS) are intensively followed by paediatricians, but are lost to follow-up when they reach adulthood. To gain insight into the adult medical and psychosocial situation, we performed a survey in young adult TS patients. Patients and Methods: A questionnaire concerning current health status, education, occupation and living situation was sent to 160 young adult TS women, all treated during childhood with GH and oestrogen if needed. Results: We received 102 completed questionnaires. Mean ± SD age at reception of the questionnaire was 23.4 ± 3.3 years, height 153.3 ± 5.2 cm, body mass index 23.7 ± 4.9 kg/m². Age and auxological parameters were comparable between responders and non-responders. Thirteen (12.7%) responders were not under regular medical care; 15 (14.7%) were seen by a general practitioner, while 28 (27.4%) needed several specialists. Forty-one (40.2%) patients reported health problems. The most frequently reported problem was hypertension (10.7%), followed by hypothyroidism (5.8%) and back problems (4.9%). Twenty-four (23.5%) of the 41 patients were taking medication for the indicated health problems. Twenty-six (25.5%) women had undergone spontaneous puberty; 16 of them reported spontaneous menstruations while 10 received oestrogen replacement therapy. Of the 76 women with induced puberty, 11 (14.5%) were not taking any oestrogen anymore. Compared with the general population, more TS women attended university and more obtained higher education. Forty-six women (45.1%) were working full-time, 7 (6.9%) were unemployed, and 4 (3.9%) received an allocation. Seventy (68.6%) patients were still living with their parents, while 18 (17.6%) were living together or married, and 14 (13.7%) were living alone. Conclusions: The transition of adolescents with TS to adult medical care is not optimal in Belgium. Although 40.2% of these young women reported health problems, 12.7% did not consult any physician. Many TS women did not take oestrogen replacement therapy. A specialized multidisciplinary approach for adults with TS is needed in order to optimize health and psychosocial status in these women.

0 comments Cited 15 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome.

A E Lin, B. Lippe, R Rosenfeld (1998)

Although cardiovascular malformations (CVMs) are well-recognized congenital anomalies in Turner syndrome, aortic dilation and dissection are less common and less familiar. Most of the relevant literature is limited to single cases reports or small series. We sought to increase the information available about the frequency and characteristics of aortic dilation in patients with Turner syndrome. A 1-page survey of cardiac abnormalities, including aortic dilation, was mailed to approximately 1000 (1040 verified) members of the Turner Syndrome Society as an enclosure in the June 1997 newsletter. We also conducted a literature review. A total of 245 patients or families of patient members of the Turner Syndrome Society responded to the survey ( approximately 24% response rate). A CVM was reported in 120 of 232 (52%) respondents to this questionnaire. Obstructive lesions of the left side of the heart predominated and included bicuspid aortic valve (38%) and coarctation (41%). Aortic dilation was reported in at least 15 of 237 respondents (6.3%; 95% confidence interval: 3.6%-10.3%); 2 of 15 (13%) had dissection. Twelve of 15 (80%) patients had an associated risk factor for aortic dilation such as a CVM or hypertension. The 3 (20%) patients who did not have a CVM or hypertension were all younger than 21 years. In the entire group with aortic dilation, 10 of 15 (67%) patients were younger than 21 years. All patients with aortic dilation had involvement of the ascending aorta, and 2 had additional involvement of the descending aorta distal to a repaired coarctation. An update of the literature revealed 68 patients with aortic dilation, dissection, or rupture. An associated CVM or hypertension was reported in 53 of 59 (90%) informative patients. At least 6 (10%) had no predisposing risk factor (information was inadequate for 9 of 68 patients). The following patterns of aortic involvement were identified: ascending +/- descending aorta with coarctation (14); ascending +/- descending aorta without coarctation (39); descending aorta with coarctation (3); descending thoracic or abdominal aorta without coarctation (4); and unspecified (8). Dissection or rupture was reported in 42/68 (62%). Two reported patients died suddenly from aortic dissection in the third trimester of assisted pregnancy. At least 20 (29%) patients were younger than 21 years. One of the 6 (17%) patients with isolated aortic dilation was in this younger group. More information is needed about the frequency and natural history of aortic dilation in Turner syndrome. This work contributes new patient data and increases the literature review. Despite the well-recognized limitations of self-reporting, this survey detected aortic dilation with or without dissection in approximately 6% of patients with Turner syndrome. Although rare, this is a potentially catastrophic occurrence, warranting greater awareness among health professionals. In this study and the literature, the vast majority of patients with aortic dilation have an associated risk factor such as a CVM, typically bicuspid aortic valve or coarctation, or systemic hypertension. These patients represent a higher risk group that should be followed appropriately, usually under the direction of a cardiologist. Patients undergoing assisted pregnancy also should be evaluated closely. It is generally accepted that at the time of diagnosis of Turner syndrome, all patients should have a complete cardiology evaluation including echocardiography. The small number of patients with aortic dilation without a CVM, who would not be under the long-term care of a cardiologist, makes it prudent to screen all patients with Turner syndrome for this potentially lethal abnormality. The specific timing for this screening is controversial. Our recommendations for prospective imaging do not represent a rigid standard of care.

0 comments Cited 15 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Journal

Journal ID (publisher-id): HRP

Journal ID (nlm-ta): Horm Res Paediatr

Journal ID (doi): 10.1159/issn.1663-2818

Title: Hormone Research in Paediatrics

Publisher: S. Karger AG

ISSN (Print): 1663-2818

ISSN (Electronic): 1663-2826

Publication date Subscription-year: 2012

Publication date (Print): May 2012

Publication date (Electronic): 26 April 2012

Volume: 77

Issue: 4

Pages: 222-228

Affiliations

^aDepartment of Pediatrics, Pediatric Endocrinology and Diabetes, Medical University of Silesia, Katowice, and ^bDepartment of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Gliwice, Poland

Author notes

*Aneta Gawlik, MD, PhD, Department of Pediatrics, Pediatric Endocrinology and Diabetes, Medical University of Silesia, ul. Medykow 16, PL–40-752 Katowice (Poland), Tel. +48 322 071 654, E-Mail agawlik@mp.pl

Article

Publisher ID: 337780 Other ID: Horm Res Paediatr 2012;77:222–228

DOI: 10.1159/000337780

PubMed ID: 22538845

SO-VID: 7208bb41-16ee-4925-b086-27bfccc08678

License:

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

History

Date received : 16 September 2011

Date accepted : 06 March 2012

Page count

Figures: 1, Tables: 4, Pages: 7

Comments

Comment on this article

scite_

Cited by 11

See all cited by

Most referenced authors 170

See all reference authors

- Version 1

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

Read this article at

Abstract

Related collections

Karger: Endocrinology

Most cited references 6

Autoimmune thyroid syndrome in women with Turner's syndrome--the association with karyotype.

Health and Psychosocial Status of Patients with Turner Syndrome after Transition to Adulthood: The Belgian Experience

Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome.

Author and article information

Journal

Affiliations

Author notes

Article

History

Page count

Categories

Comments

Comment on this article

Similar content 129

Cited by 11

Most referenced authors 170