Disorders of sex development (DSDs) are congenital conditions characterized by atypical development of chromosomal, gonadal or anatomical sex. New technologies are rapidly generating vast amounts of new data on the pathogenesis of DSDs. However, the diagnosis and management of patients with DSDs remains challenging. This Nature Reviews Endocrinology collection on DSDs includes articles from leading experts in the field, covering topics from pathogenesis and management to the transition from paediatric care to adult care.
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REVIEWS
Genetic regulation of mammalian gonad development and function
Stefanie Eggers, Thomas Ohnesorg & Andrew Sinclair
doi:10.1038/nrendo.2014.163
Nature Reviews Endocrinology 10, 673-683 (2014)
Determination, differentiation and development of the gonads are important processes in early mammalian development. This article is focused on the genetic networks underlying these processes, whose disruption in humans can lead to disorders of sex development. The authors discuss the pathways controlling sex-specific gonadal development, from the bipotential gonad to the fully differentiated ovary or testis.
DSDs: genetics, underlying pathologies and psychosexual differentiation
Valerie A. Arboleda, David E. Sandberg & Eric Vilain
doi:10.1038/nrendo.2014.130
Nature Reviews Endocrinology 10, 603-615 (2014)
Disorders of sex development (DSDs) arise when the tightly regulated process of sex determination in the developing bipotential gonads is disrupted. In this Review, the authors discuss mutations in sex determining genes that are associated with DSDs, as well as classification of the disorders and the psychosexual differentiation of individuals with DSDs.
Management of disorders of sex development
Olaf Hiort, Wiebke Birnbaum, Louise Marshall, Lutz Wünsch, Ralf Werner, Tatjana Schröder, Ulla Döhnert & Paul-Martin Holterhus
doi:10.1038/nrendo.2014.108
Nature Reviews Endocrinology 10, 520-529 (2014)
The diagnosis of disorders of sex development (DSDs) in individuals and the subsequent management of patients and their families requires a multidisciplinary approach. In this Review, Olaf Hiort and colleagues discuss the latest developments in diagnostic procedures for identifying DSDs and strategies for managing patients, including the creation of centres of expertise.
Malformation syndromes associated with disorders of sex development
John M. Hutson, Sonia R. Grover, Michele O'Connell & Samuel D. Pennell
doi:10.1038/nrendo.2014.83
Nature Reviews Endocrinology 10, 476-487 (2014)
Disruption of the precise timing of gonadal differentiation and the exposure to adequate levels of specific hormones during critical periods that are required for normal genital development leads to disorders of sex development. This Review summarises the malformation syndromes associated with disorders of sex development and discusses the recent research into their aetiology.
Disorders of sex development: new genes, new concepts
Makoto Ono & Vincent R. Harley
doi:10.1038/nrendo.2012.235
Nature Reviews Endocrinology 9, 79-91 (2013)
Disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. In this Review, the authors outline the complex network of gene regulation that is required for gonadal development. They then describe gene mutations that perturb the delicate balance of the network and lead to DSDs. Finally, the authors discuss management of patients with DSDs.
PERSPECTIVES
Transition of care for adolescents with disorders of sex development
Naomi S. Crouch & Sarah M. Creighton
doi:10.1038/nrendo.2014.62
Nature Reviews Endocrinology 10, 436-442 (2014)
Transfer from paediatric to adult health-care services for individuals with a disorder of sex development has specific issues that can impede continuity of care. Here, Crouch and Creighton discuss these barriers, and propose that a long-term plan with psychological support at each stage of transition could ensure successful transfer for these patients.
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