The genetic community is invited to comment on documents issued by ESHG committees (notably the Public and Professional Policy Committee - PPPC).
After incorporation of comments received within a defined period, the documents will be sent to the ESHG Board for approval and eventually issued as ESHG recommendations.

Dear colleague,

I am writing you on behalf of the International Growth Genetics Guideline Consortium. This is a large international consortium that has been working on preparing an international guideline on genetic testing of short children.

International guideline on genetic testing of children with short stature

International guideline on genetic testing of children with short stature - Supplementary Information

The work on this guideline was initiated by the Clinical Practice Committee of the European Society of Paediatric Endocrinology (ESPE). First, a small steering committee was set up to design the format of the guideline, invite the methodologist and suggest names of pediatric endocrinologists to be invited to the International Growth Genetics Guideline Consortium (IGGGC). The invited pediatric endocrinologists are established experts in genetic testing of short children and were chosen from ESPE and other regional Societies of Pediatric Endocrinology. The presidents of the European Society of Human Genetics (ESHG) and American College of Medical Genetics (ACMG) were informed about this project and invited to be involved. Clinical geneticists with special expertise on genetics of growth, working in three continents, were invited to the IGGGC by the steering committee.

The consortium (n=32) consists of 21 pediatric endocrinologists, 9 clinical geneticists, 1 laboratory scientist and 1 clinical epidemiologist/adult endocrinologist. The following clinical geneticists are involved: Debora Bertola (Brasil), Thomas Eggermann (Germany), Giedre Grigelioniene (Sweden), Karen Heath (Spain), Pablo Lapunzina (Italy), Geert Mortier (Belgium), Stepanka Pruhova (Czech Rep), Emma Wakeling (UK) and Carlos Ferreira (USA). ESPE was the only sponsor and funded all costs related to the initiative.

We are now getting close to finalizing the manuscript of the guideline which will be submitted to European Journal of Endocrinology (EJE). The procedure to be followed for submission of a guideline in EJE consists of two elements that are preferably carried out simultaneously:

1)    the near-final version of the guideline is sent to four designated reviewers (chosen by the authors, but not liaised to the guideline), and their comments and the authors’ responses will be presented in a Supplementary Table. For this guideline, the designated reviewers are Prof. Outi Makitie (Europe), Prof. Ron Rosenfeld (USA), Prof. Margaret Boguszewski (Latin America) and Prof. Tom Ogata (Asia).

2)    The near-final version of the guideline should also be made available to members of medical societies involved with the topic of the guideline, and members should be invited to comment. This applies to all continental societies of pediatric endocrinology and continental societies of human/medical genetics. Comments and the authors’ responses will be published in the same Supplementary Table as mentioned for the designated reviewers.

After integrating the various revisions into the final version of the guideline manuscript, including acknowledgements of the designated reviewers and members of the societies who have commented upon the guideline, the editors of EJE will in principle accept it for publication.  

Please send comments to: 

- prof. Jan-Maarten Wit, guideline coordinator (j.m.wit(at)lumc.nl) and 

- prof. Stefano Cianfarani, chair of the Clinical Practice Committee of ESPE (stefano.cianfarani(at)uniroma2.it).

until November 12, 2025.

Kind regards,

Prof. Stefano Cianfarani,
chair of the Clinical Practice Committee of the European Society of Paediatric Endocrinology (ESPE)

Stefano Cianfarani
-- 
Prof. Stefano Cianfarani
Professor of Pediatrics, Department of Systems Medicine, University of Rome ‘Tor Vergata’
Chair of Endocrinology & Diabetes Unit, 'Bambino Gesù ' Children's Hospital, Rome.

Chair of  'Tor Vergata' University Pediatric Residency Program.
Affiliated Researcher, Department of Women's and Children's Health, Karolinska Institutet, Stockholm.
Editor in Chief of Hormone Research in Pediatrics.