Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD)
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Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD) : recommendations from the COST action DSDnet. / Flück, Christa; Nordenström, Anna; Ahmed, S Faisal; Ali, Salma R; Berra, Marta; Hall, Joanne; Köhler, Birgit; Pasterski, Vickie; Robeva, Ralitsa; Schweizer, Katinka; Springer, Alexander; Westerveld, Puck; Hiort, Olaf; Cools, Martine.
In: EUR J ENDOCRINOL, Vol. 181, No. 5, 11.2019, p. 545-564.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD)
T2 - recommendations from the COST action DSDnet
AU - Flück, Christa
AU - Nordenström, Anna
AU - Ahmed, S Faisal
AU - Ali, Salma R
AU - Berra, Marta
AU - Hall, Joanne
AU - Köhler, Birgit
AU - Pasterski, Vickie
AU - Robeva, Ralitsa
AU - Schweizer, Katinka
AU - Springer, Alexander
AU - Westerveld, Puck
AU - Hiort, Olaf
AU - Cools, Martine
PY - 2019/11
Y1 - 2019/11
N2 - The treatment and care of individuals who have a difference of sex development (DSD) have been revised over the past two decades and new guidelines have been published. In order to study the impact of treatments and new forms of management in these rare and heterogeneous conditions, standardised assessment procedures across centres are needed. Diagnostic work-up and detailed genital phenotyping are crucial at first assessment. DSDs may affect general health, have associated features or lead to comorbidities which may only be observed through lifelong follow-up. The impact of medical treatments and surgical (non-) interventions warrants special attention in the context of critical review of current and future care. It is equally important to explore gender development early and refer to specialised services if needed. DSDs and the medical, psychological, cultural and familial ways of dealing with it may affect self-perception, self-esteem, and psychosexual function. Therefore, psychosocial support has become one of the cornerstones in the multidisciplinary management of DSD, but its impact remains to be assessed. Careful clinical evaluation and pooled data reporting in a global DSD registry will allow linking genetic, metabolomic, phenotypic and psychological data. For this purpose, our group of clinical experts and patient and parent representatives designed a template for structured longitudinal follow-up. In this paper, we explain the rationale behind the selection of the dataset. This tool provides guidance to professionals caring for individuals with a DSD and their families. At the same time, it collects the data needed for answering unsolved questions of patients, clinicians, and researchers. Ultimately, outcomes for defined subgroups of rare DSD conditions should be studied through large collaborative endeavours using a common protocol.
AB - The treatment and care of individuals who have a difference of sex development (DSD) have been revised over the past two decades and new guidelines have been published. In order to study the impact of treatments and new forms of management in these rare and heterogeneous conditions, standardised assessment procedures across centres are needed. Diagnostic work-up and detailed genital phenotyping are crucial at first assessment. DSDs may affect general health, have associated features or lead to comorbidities which may only be observed through lifelong follow-up. The impact of medical treatments and surgical (non-) interventions warrants special attention in the context of critical review of current and future care. It is equally important to explore gender development early and refer to specialised services if needed. DSDs and the medical, psychological, cultural and familial ways of dealing with it may affect self-perception, self-esteem, and psychosexual function. Therefore, psychosocial support has become one of the cornerstones in the multidisciplinary management of DSD, but its impact remains to be assessed. Careful clinical evaluation and pooled data reporting in a global DSD registry will allow linking genetic, metabolomic, phenotypic and psychological data. For this purpose, our group of clinical experts and patient and parent representatives designed a template for structured longitudinal follow-up. In this paper, we explain the rationale behind the selection of the dataset. This tool provides guidance to professionals caring for individuals with a DSD and their families. At the same time, it collects the data needed for answering unsolved questions of patients, clinicians, and researchers. Ultimately, outcomes for defined subgroups of rare DSD conditions should be studied through large collaborative endeavours using a common protocol.
KW - Child
KW - Data Collection/standards
KW - Disorders of Sex Development/diagnosis
KW - Female
KW - Humans
KW - Male
KW - Quality of Life
KW - Reference Standards
KW - Research Design
KW - Sexual Development/physiology
KW - Treatment Outcome
U2 - 10.1530/EJE-19-0363
DO - 10.1530/EJE-19-0363
M3 - SCORING: Journal article
C2 - 31539875
VL - 181
SP - 545
EP - 564
JO - EUR J ENDOCRINOL
JF - EUR J ENDOCRINOL
SN - 0804-4643
IS - 5
ER -
