MCecile-US14
commented
1 month ago Dear @Orphabe,
Thank your for your suggestion. We are taking note of all the comments the belgian expert made, so far we have not been contacted by ENDO ERN nor other experts about this.
Our Nomenclature /classification revision calendar is full until mid 2025, therefore @Orphanet-MartaFructuoso will first assessed and review the Orphanet history regarding the group ORPHA:90771 to resume the state of the art in light of the current literature and practice. Then might eventually get in touch with ENDO ERN to evaluate if a revision is to be planned in the future.
We will keep you update with any new steps forward. Kind Regards, Marie-Cécile
Dear colleagues,
On the occasion of the HCP ERN survey, a Belgian DSD expert - who is the UZ Gent representative for Sex Development & Maturation (MTG7) in Endo-ERN - shared with us her opinion that ORPHAcodes are not up to date and use outdated terminology for this specific group of disorders.
She specifies that for the DSD group of disorders (ORPHA:90771): ORPHAcoding uses the known gene for some of the conditions, whereas for others, where the underlying genetic etiology is also known, this gene is not mentioned in the condition. Although there have been some updates, the coding system is thus inconsistent. Some older terms, that have since long been abandoned are still mentioned, eg Swyer syndrome, (pseudo)hermaphroditism. These terms are considered very stigmatizing for patients. In EndoERN we report based on the condition’s name, which is then translated in an ORPHAcode (if available). For transgender and gender diverse youth there is no code, therefore ICD codes are used.
Swyer syndrome (ORPHA:242) is indeed used in Orphanet as a synonym for "46,XY complete gonadal dysgenesis" (preferred term in Orphanet). The terms hermaphroditism/pseudohermaphroditism are used as keywords or synonym for several conditions.
We would like to know if, according to your information, this opinion is shared by other experts in the field and if therefore, a collaboration with Endo-ERN would be possible to revise the DSD group included in the classification of rare endocrine diseases.
Thanks in advance for your feedback, kind regards,
Annabelle (Orphanet Belgium)