Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Reference166 articles.
1. Lee, P. A. et al. Consensus statement on management of intersex disorders. Pediatrics 118, e488–e500 (2006). This seminal publication of the 2005 International Consensus Conference on Management of Intersex Disorders, convened by the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE), coined the term DSD and laid out the current framework for nomenclature, diagnosis and interdisciplinary management of DSD.
2. Parivesh, A., Barseghyan, H., Délot, E. & Vilain, E. Translating genomics to the clinical diagnosis of disorders/differences of sex development. Curr. Top. Dev. Biol. 134, 317–375 (2019). This review of the genetic aetiology and testing of DSD provides a comprehensive analysis of the available evidence of pathogenicity, and the current limitations of the ClinVar database, for 69 DSD genes.
3. Délot, E. C. & Vilain, E. in Yen & Jaffe’s Reproductive Endocrinology: Physiology, Pathophysiology, and Clinical Management 8th edn (Strauss, J. F. III & Barbieri, R. L.) 365–393 (Elsevier, 2018). This textbook chapter details clinical DSD categories, aetiology, testing and management approaches.
4. Hutson, J. M. & Kearsey, I. Disorders of sex development (DSD): not only babies with ambiguous genitalia. A practical guide for surgeons. Pediatr. Surg. Int. 33, 355–361 (2017).
5. Délot, E. C. et al. Genetics of disorders of sex development: the DSD-TRN experience. Endocrinol. Metab. Clin. North. Am. 46, 519–537 (2017). This publication lays out the principles of the practice standardization effort undertaken by the DSD-TRN and includes a report of early genetics data from its registry.
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