About the Society

ESPE Working Groups

ESPE Turner Syndrome Working Group

Background

TS girls constitute a group with multi-facet problems leading to increase nosology and mortality: growth retardation, cardiovascular disorders, osteoporosis, infertility, chronic diseases and psychosocial problems. The reduced life expectancy is mainly due to the cardiovascular conditions.

Aims

  • Provide multidisciplinary guidelines for evaluation and treatment to optimize a holistic care of individuals with TS and to ameliorate the quality’s life.
  • Promote knowledge and education to reduce delays in diagnosis and prevent and treat early the complications.
  • Collaborate with adult endocrinologists and pediatric gynecologists to plan a careful transition to adult medical care.

Names of proponents

Coordinator:
Laura Mazzanti - Italy

Other proponents:
Attila Buyukgebitz - Turkey
Alexander Kurtev - Bulgaria
Berit Kristrom - Sweden
Ewa Tendera - Poland
Jean-Claude Carel - France
Lucia Ghizzoni - Italy
Nehama Zuckerman-Levin - Israel
Ze'ev Hochberg - Israel
Ensio Norjavaara - Sweden
Sabine M.P.F. de Muinck Keizer-Schrama - The Netherlands

Actual activity

  • Report the results of trials with very small doses of estrogens in the prepubertal stage.
  • Make a summary of the results of the use of small doses of oxandrolone in addition to GH on final height of TS subjects.
  • Evaluation of the various aspects of gonadal function in TS subjects from childhood to adulthood.

Planned activities for the next 2 to 3 years

  • Promote validated guidelines and formulate new guidelines for more appropriate and earlier intervention aiming to better management of TS subjects in childhood and adulthood.
  • In particular, promote appropriate guidelines for cardiovascular complications in TS : the main cause of increased risk of mortality for TS subjects.
  • Multicenter studies to optimize pubertal replacement treatment (androgen and estrogen) in TS and to compare different formulations of estrogens (transdermal and oral).
  • Support the writing of pertinent leaflets for patients and their families in countries in which such information is missing.
  • Collaborate with adult endocrinologists and pediatric gynecologists.

Intervention studies

The following ideas have been entertained:

  1. Trials with very small doses of estrogens in the prepubertal stage.
  2. Multicenter study to optimize pubertal replacement treatment (androgen and estrogen) in TS.
  3. Early Calcium and Vitamin D supplementation for possible prevention of osteoporosis.
  4. Life style modifications and psychosocial support especially in adolescents.

Meetings

Symposia will be held annually possibly the day before the formal opening of the ESPE annual meeting in coordination with the POC.

Next meeting date, venue: Glasgow, September 25th ,2011.

Topic: Ovarian failure in TS: introductive comments to the ESPE Turner Syndrome Working Group Meeting.

Ovarian failure occurs in most subjects with Turner syndrome (TS), but about 25-30% of TS girls have some grade of spontaneous puberty and some experience menarche. The aim of the ESPE Turner Syndrome Study Group Meeting of Glasgow 2011 will be the evaluation of the various aspects of gonadal function in TS subjects. The introductory theme is dedicated to the fate of the ovary in Turner subjects, considering the development of the ovary and the genes involved in syndromic premature ovarian failure. Clinical aspects of gonadal function will be presented at different ages of life: prenatal, early childhood, pubertal age and adulthood. The last part of the meeting is devoted to a much debated topic: the opportunity for fertility in TS. These individuals, who feel normal after reaching a satisfactory final height with GH-therapy, hardly accept that they could not have children. Today, many centres offer opportunities for fertility by cryopreservation. Pregnancies in these subjects, however, seem to be a high risk in particular for cardiovascular problems. Specific recommendations for surveillance in women with Turner syndrome during pregnancy should be prepared.

Contact for further information

Laura Mazzanti, M.D.
Associate Professor of Pediatrics
Rare Disease Unit
Department of Pediatrics
S.Orsola-Malpighi University Hospital
University of Bologna
Via Massarenti 11
40138 Bologna, Italy
Tel: +39 051 6363723 (amb.) 4668 (studio)
Fax: +39 051 6363722
e-mail: laura.mazzanti@unibo.it