Caring for individuals with a difference of sex development (DSD): a Consensus Statement

TY - JOUR

T1 - Caring for individuals with a difference of sex development (DSD): a Consensus Statement

AU - Cools, Martine

AU - Nordenström, Anna

AU - Robeva, Ralitsa

AU - Hall, Joanne

AU - Westerveld, Puck

AU - Flück, Christa

AU - Köhler, Birgit

AU - Berra, Marta

AU - Springer, Alexander

AU - Schweizer, Katinka

AU - Pasterski, Vickie

AU - COST Action BM1303 working group 1

PY - 2018/7

Y1 - 2018/7

N2 - The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up. Many adults with a DSD have health-related questions that remain unanswered owing to a lack of evidence pertaining to the natural evolution of the various conditions in later life stages. This Consensus Statement, developed by a European multidisciplinary group of experts, including patient representatives, summarizes evidence-based and experience-based recommendations for lifelong care and data collection in individuals with a DSD across ages and highlights clinical research priorities. By doing so, we hope to contribute to improving understanding and management of these conditions by involved medical professionals. In addition, we hope to give impetus to multicentre studies that will shed light on outcomes and comorbidities of DSD conditions across the lifespan.

AB - The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up. Many adults with a DSD have health-related questions that remain unanswered owing to a lack of evidence pertaining to the natural evolution of the various conditions in later life stages. This Consensus Statement, developed by a European multidisciplinary group of experts, including patient representatives, summarizes evidence-based and experience-based recommendations for lifelong care and data collection in individuals with a DSD across ages and highlights clinical research priorities. By doing so, we hope to contribute to improving understanding and management of these conditions by involved medical professionals. In addition, we hope to give impetus to multicentre studies that will shed light on outcomes and comorbidities of DSD conditions across the lifespan.

KW - Journal Article

KW - Review

U2 - 10.1038/s41574-018-0010-8

DO - 10.1038/s41574-018-0010-8

M3 - SCORING: Journal article

C2 - 29769693

VL - 14

SP - 415

EP - 429

JO - NAT REV ENDOCRINOL

JF - NAT REV ENDOCRINOL

SN - 1759-5029

IS - 7

ER -