Turner Syndrome survey: contribute to research
22 Jun 2020
Questionnaire concerning availability of oral and transdermal estradiol, and progestogen preparations in the countries of members of the European Society for Paediatric Endocrinology
Prepared on behalf of ESPE Turner Syndrome Working Group
Take survey now (Parts HCPa & b for Health care professionals)
Most girls with Turner syndrome (TS) have primary ovarian insufficiency and require pubertal induction with oestrogens and introduction of progesterone towards the end of the induction period (Donaldson MD et al 2006, Pasquino et al 1997, Hankus et al. 2018).
Recent papers including the Cincinnati guidelines (Gravholt et al. 2017) and British guidelines (Matthews et al. 2017), recommend use of natural rather than synthetic oestrogen in the form of 17ꞵ-estradiol. Oestrogen may be given using tablets, or by apply patches to the skin – the transdermal method.
Compliance with the recent guidelines depends on the availability of suitable oral and transdermal preparations but preliminary enquires reveal that this is a problem in some European countries.
The purpose of this questionnaire, therefore, is to establish what oestrogen and progesterone preparations are currently available in the countries of health care workers who are members of the European Society for Paediatric Endocrinology (ESPE) and also from girls and parents with TS in these countries.
An English version of a questionnaire on the availability of oral/ transdermal estradiol, and progestogen preparations has been prepared by Professor Aneta Gawlik with support from the Steering Committee of the ESPE Turner Syndrome Working Group (TSWG).
The questionnaire consists of three parts, two of which (a & b) are dedicated to health care professionals (HCP), the third (c) is intended for Turner syndrome patients and their parents/families (P&P). All three parts were converted into a survey in SurveyMonkey (https://www.surveymonkey.com/).
Parts HCPa & b (https://www.surveymonkey.com/r/TNF3VXT) concerning the availability of preparations/doses in specific countries/centres and preferred products, will be sent directly to colleagues from ESPE as well as to known experts with expertise and interest in pubertal induction. Both parts will be furthermore distributed as a link though the ESPE “Newsletter” and/or “News Alert Service” to all ESPE members (over 1200 members from over 90 countries). Part P&P c (https://www.surveymonkey.com/r/RMNMY2G) similar to parts HCP a&b, was converted to a survey in SurveyMonkey. The President of the Turner Syndrome International Group (www.tsint.org) has agreed to help with distributing the questionnaire.
The proposed time frame for receiving feedback is from June 2020 until the end 2020.
The questionnaire responses will be reviewed by the TSWG Steering Committee Members, as well as the cooperating member of TSINT. A meeting or a teleconference will be organized in order to analyze the data and arrive at a final conclusion.
It is our intention to publish the findings of this questionnaire, offering the manuscript to ESPE’s journal Hormone Research in Paediatrics in the first instance. It is anticipated that this work will underline the current lack of, and need for, appropriate oestrogen and progesterone preparations necessary for the care of girls with primary ovarian failure, including but not confined to TS.
- Donaldson MD, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child. 2006 Jun;91(6):513–20.
- Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G; Italian Study Group for Turner’s Syndrome. Spontaneous pubertal development in Turner’s syndrome. J Clin Endocrinol Metab. 1997 Jun;82(6):1810–3.
- Hankus M, Soltysik K, Szeliga K, Antosz A, Drosdzol-Cop A, Wilk K, Zachurzok A, Malecka-Tendera E, Gawlik AM. Prediction of Spontaneous Puberty in Turner Syndrome Based on Mid-Childhood Gonadotropin Concentrations, Karyotype, and Ovary Visualization: A Longitudinal Study. Horm Res Paediatr. 2018;89(2):90–7.
- Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 Sep;177(3):G1–70.
- Matthews D, Bath L, Högler W, Mason A, Smyth A, Skae M. Hormone supplementation for pubertal induction in girls. Arch Dis Child. 2017 Oct;102(10):975–80.
Aneta Gawlik1, Debbie Matthews2, Siska Verlinde3, Malgorzata Wasniewska4, Berit Kriström5, Janielle van der Velden6, Theo Sas7,8, Emma-Jane Gault9, Arlene Smyth10 and Malcolm Donaldson11
on behalf of the European Society for Paediatric Endocrinology Turner Syndrome Working Group.
- Department of Pediatrics and Pediatric Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland. email@example.com; +48 502125600
- Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK, firstname.lastname@example.org
- Belgian Study Group of Paediatric Endocrinology and Diabetes, Brussels, Belgium.
- Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, 98122, Messina, ME, Italy.
- Institution of Clinical Science, Pediatrics, Umeå University, Umeå, Sweden.
- Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
- Department of Pediatric Endocrinology, Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
- Diabeter, National Diabetes Care and Research Center, Rotterdam, The Netherlands.
- Research Governance Officer, University of Glasgow, email email@example.com
- Executive Officer Turner Syndrome Support Society, Clydebank Business Park, Glasgow, UK.
- Glasgow University School of Medicine, Glasgow, United Kingdom, firstname.lastname@example.org.