Standardised data collection scheme outlined for people with DSD

medwireNews: The European Cooperation in Science and Technology Action DSDnet group have published recommendations for standardised data collection during clinical follow-up of patients with differences of sexual development (DSD).

The guidelines, produced by Martine Cools (Ghent University Hospital, Belgium) and collaborators, are published in the European Journal of Endocrinology.

They say: “Consensus was reached on standardized assessments of individuals who have a DSD and on the ages at which clinical revision should be performed in order to capture crucial developmental milestones and/or long-term consequences of the various conditions.”

The team recommends that data should be collected from patients at birth, during childhood (ages 4 and 8 years) and adolescence (at the start and end of puberty), and then at regular intervals throughout adulthood (18–25 years, 25–40 years, 40–60 years, and 60–80 years).

They say that linking the case to original health records and obtaining consent for data-sharing “are crucial” at the time of first referral. Basic DSD-related information, such as diagnosis, karyotype, birth-assigned sex and social gender should also be included at this time.

At all assessments the authors recommend the collection of general data such as anthropometric measurements, parental height and current gender, as well as information on the internal phenotype, surgery, psychosocial measures, medication use and laboratory parameters.

Information on bone age and gender identity are then added to the assessments from age 4 years onwards, while data on bone mineral density, puberty and sexual health are collected from adolescence onwards. Assessments among adults include the addition of comorbidity data, while information on external genital phenotype is only collected during infancy and childhood.

Cools and team stress that “[g]enital examinations should be limited and should have a clear and transparent purpose.” They add that previous problems with visual scales for describing genital status, such as inter-observer variability and their dichotomous nature, have been overcome with the development of the External Genitalia Score (EGS).

They explain that “[t]he EGS assesses the same anatomical landmarks as [the External Masculinization Score] while using a gender-neutral vocabulary applicable in all infants up to two years of age, and a more gradual scale, reflecting the naturally occurring phenotypic variability of external genitalia.”

The authors believe they have developed a protocol “versatile enough to be used in clinical settings as well as within electronic global platforms such as the I-DSD registry.”

They add: “In the clinical setting, the tool will ensure and support a high quality of clinical care. Long-term and wide use of this instrument, e.g. through the I-DSD Registry, will allow answering critical research questions in the future specifically in relation to outcome, treatment options, comorbidities in adult age and fertility.”

Furthermore, “patient reported outcome measures, obtained through patient portals, are expected to become increasingly important and may be also implemented in the [I-DSD] registry in the near future.”

By Laura Cowen

medwireNews is an independent medical news service provided by Springer Healthcare. © 2019 Springer Healthcare part of the Springer Nature group

Eur J Endocrinol 2019; doi:10.1530/EJE-19-0363
Martin Savage
Programme Director
Sign up for eAlerts
Be the first to hear about new resources and content by signing up to receive our eAlerts.

We'd love your feedback!

Please complete this short 5-question survey to help improve the content offered on this website.
Please rank the following aspects of the program from best [1] to worst [4].