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Department of Gynecology and Reproductive Medicine, Karolinska University Hospital, Stockholm, Sweden.
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hypothalamic disturbance due to energy deficiency and PCOS. Differences/disorders of sex development A few women are born with rare conditions, referred to as differences/disorders of sex development (DSD), in which the development of chromosomal
Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco
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Introduction Differences (or disorders) of sex development (DSD) are defined as congenital conditions in which inconsistencies occur in chromosomal, gonadal, and anatomical (genital) sex development ( 1 ). DSD exhibits intricate
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.0052 ) 6 Rey RA Grinspon RP. Normal male sexual differentiation and aetiology of disorders of sex development . Best Practice and Research: Clinical Endocrinology and Metabolism 2011 25 221 – 238 . ( https://doi.org/10.1016/j.beem.2010.08.013 ) 7
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Office for Rare Conditions, University of Glasgow, Glasgow, UK
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all patients and caregivers who agreed to participate in this study. References 1 Hughes IA . Disorders of sex development: a new definition and classification . Best Practice and Research. Clinical Endocrinology and Metabolism 2008 22
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
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Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
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Université Claude Bernard, Lyon, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Université Claude Bernard, Lyon, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
Université Claude Bernard, Lyon, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
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, which aimed at centralizing and homogenizing the medical management of all patients with disorders of sex development. In 2006, it was structured as part of the first national plan for rare diseases (‘Plan National Maladies Rares’), which widened its
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-6 ) 8 Köhler B Biebermann H Friedsam V Gellermann J Maier RF Pohl M Wieacker P Hiort O Grüters A Krude H . Analysis of the Wilms’ tumor suppressor gene (WT1) in patients 46,XY disorders of sex development . Journal of Clinical
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Introduction Complete androgen insensitivity syndrome (CAIS) is one of the most common disorders of sex development (DSD) caused by mutations of the androgen receptor gene. The estimated prevalence of AIS is 4.1 per 100,000 live born females
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INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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are useful to identify the hyperandrogenism cause. Independently of the presence or not of Müllerian structures, karyotyping must also be performed to exclude a 46,XY disorder of sex development (DSD) resulting in sex reversal. Indeed, in the absence
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different forms of differences/disorders of sex development, aiming to provide the basis for improvements in evidence-based recommendations for care. Ethical approval was first sought from the medical ethics committee at the Charité Universitätsmedizin
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Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
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the EU) in basic mechanisms and other aspects of TS, as well as other disorders of sex development (DSDs) ( 19 ). In conclusion, the paper by Kahlert et al . highlights the overall problematic state of the current level of care for adults with TS