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

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          Abstract

          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.

          Abstract

          Differences of sex development (DSDs) comprise a large group of congenital conditions of the urogenital tract and reproductive system. This Consensus Statement summarizes recommendations for clinical indications, diagnosis and management of patients with a DSD.

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          Most cited references 149

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          The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

          In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.
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            Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

             Peter A. Lee (corresponding) ,  Anna Nordenström,  Christopher Houk (2016)
            The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. An effort was made to include representatives from a broad perspective including support and advocacy groups. The goal of patient care is focused upon the best possible quality of life (QoL). The field of DSD is continuously developing. An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups. Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves QoL. The evolution of diagnosis and care continues, while it is still impossible to predict gender development in an individual case with certainty. Such decisions and decisions regarding surgery during infancy that alters external genital anatomy or removes germ cells continue to carry risk.
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              Livebirth after uterus transplantation.

              Uterus transplantation is the first available treatment for absolute uterine infertility, which is caused by absence of the uterus or the presence of a non-functional uterus. Eleven human uterus transplantation attempts have been done worldwide but no livebirth has yet been reported.
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                Author and article information

                Contributors
                martine.cools@ugent.be
                Journal
                Nat Rev Endocrinol
                Nat Rev Endocrinol
                Nature Reviews. Endocrinology
                Nature Publishing Group UK (London )
                1759-5029
                1759-5037
                16 May 2018
                16 May 2018
                2018
                : 14
                : 7
                : 415-429
                Affiliations
                [1 ]Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium
                [2 ]Department of Women’s and Children’s Health, Paediatric Endocrinology Unit, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
                [3 ]ISNI 0000 0004 0621 0092, GRID grid.410563.5, Clinical Center of Endocrinology and Gerontology, , Medical University-Sofia, Medical Faculty, ; Sofia, Bulgaria
                [4 ]CAH support group, Chester, UK
                [5 ]DSDNederland, Amsterdam, Netherlands
                [6 ]ISNI 0000 0001 0726 5157, GRID grid.5734.5, Paediatric Endocrinology and Diabetology, Department of Paediatrics and Department of Clinical Research, Inselspital, Bern University Hospital, , University of Bern, ; Bern, Switzerland
                [7 ]ISNI 0000 0001 2248 7639, GRID grid.7468.d, Department of Paediatric Endocrinology, Charité University Medicine, , Humboldt University Berlin, ; Berlin, Germany
                [8 ]ISNI 0000 0004 1756 2640, GRID grid.476047.6, Department of Obstetrics and Gynaecology, , Ramazzini Hospital, AUSL Modena, ; Modena, Italy
                [9 ]ISNI 0000 0000 9259 8492, GRID grid.22937.3d, Department of Paediatric Surgery, , Medical University Vienna, ; Vienna, Austria
                [10 ]ISNI 0000 0001 2180 3484, GRID grid.13648.38, Institute for Sex Research and Forensic Psychiatry, , University Clinic Hamburg-Eppendorf, ; Hamburg, Germany
                [11 ]ISNI 0000000121885934, GRID grid.5335.0, Department of Psychology, , University of Cambridge, ; Cambridge, UK
                Article
                10
                10.1038/s41574-018-0010-8
                7136158
                29769693
                © Macmillan Publishers Ltd., part of Springer Nature 2018

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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                Consensus Statement
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                © Macmillan Publishers Ltd., part of Springer Nature 2018

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