{
  "abstract": "Background: Complete androgen insensitivity syndrome (CAIS) is a rare condition affecting sex development. Due to limited literature, especially for providing care in adulthood, clinical management remains challenging, and several issues remain inadequately addressed.\n\nMethods: We conducted an international survey to examine current clinical practices in the management of CAIS across the Referral Centres (RC) of Main Thematic Group 7 (MTG7) of the European Reference Network on Rare Endocrine Conditions (Endo-ERN), with the aim of identifying needs for standardization and potential gaps in care. We collected responses from 24 RC in 11 countries for a total of 256 individuals with CAIS. The majority of respondents were paediatric centres (62.5%), highlighting the challenges in obtaining comprehensive data on adults with CAIS. The survey addressed various aspects of care, including diagnosis, genetic testing, gonadectomy, hormone replacement therapy (HRT), bone health, management of vaginal hypoplasia, and sexual outcomes.\n\nResults: Key findings highlight significant variability in HRT protocols across centres, especially in adulthood, and reveal a lack of standardization in assessing potential long-term outcomes such as bone and sexual health.\n\nConclusions: Given the complexity and rarity of CAIS, a centralized approach referring patients to centres with expertise in the management of the condition and the development of a clinical practice expert opinion for the management of CAIS beyond the paediatric age could help address current gaps, particularly in the transition from paediatric to adult care. All participating experts emphasized the need to develop such document to optimize CAIS care.\n\nSupplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s40618-026-02990-5.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Clinical Sciences and Community Health, University of Milan, Dipartimento Di Eccellenza, 2023-2027 Milan, Italy",
    "Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy",
    "Department of Surgery, Dentistry, Pediatrics and Gynecology, Pediatric Clinic C, University of Verona, Verona, Italy",
    "Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy",
    "Unit of Endocrinology and Metabolic Diseases, Department of Advanced Medical and Surgical Sciences, University of Campania Luigi Vanvitelli, Naples, Italy",
    "Department of Pediatrics, Klinikum Wels, Wels, Austria",
    "Department of Internal Medicine and Paediatrics, Ghent University and Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium",
    "Pediatric Endocrinology and Diabetology, Reference Center for Rare Diseases of Thyroid and Hormone Receptors, Angers Universital Hospital, Angers, France",
    "Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy",
    "Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland",
    "Department of Woman, Child, General and Specialized Surgery, Università Degli Studi Della Campania Luigi Vanvitelli, Naples, Italy",
    "Dept. of Paediatric Endocrinology, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands",
    "Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, Netherlands",
    "Amsterdam Reproduction and Development, Amsterdam, Netherlands",
    "University Hospital Schleswig-Holstein, Campus Luebeck, Germany",
    "University Hospital Schleswig-Holstein, Campus, Kiel, Germany",
    "Department of Paediatrics, Second Faculty of Medicine of Charles University and University Hospital Motol, Prague, Czech Republic",
    "Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy",
    "Dept of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy",
    "Department of Endocrine and Metabolic Diseases, RCCS Istituto Auxologico Italiano, Milan, Italy",
    "Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus",
    "Department of Experimental and Clinical Biomedical Science, University of Florence, Careggi Universital Hospital, Florence, Italy",
    "Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria",
    "Division of Pediatric Endocrinology, St Anna Children´S Hospital, Medical University of Vienna, Vienna, Austria",
    "Unit of Endocrinology Azienda Ospedaliero, Uiversitaria of Modena, Modena, Italy",
    "Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy",
    "Reference Center for Rare Diseases of Thyroid and Hormone Receptors, Angers University Hospital, Angers, France",
    "Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Hospital, Milan, Italy",
    "Pediatric Endocrinology Section, Vall d’Hebron University Hospital and Autonomous University of Barcelona, Barcelona, Spain",
    "CIBER Enfermedades Raras, Instituto Carlos III, Madrid, Spain",
    "German Center for Child and Adolescents Health (DZKJ), Partner Site Ulm and Center for Rare Endocrine Diseases, Division of Paediatric Endocrinology and Diabetes, University Medical Center Ulm, Ulm, Germany",
    "Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark",
    "Department of Clinical Medicine, Aarhus University, Aarhus, Denmark",
    "Department of Pediatrics, Radboud University Medical Center, Nijmegen, Netherlands"
  ],
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    {
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        0,
        1
      ],
      "name": "Eriselda Profka"
    },
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        0,
        1
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      "name": "Alessandra Mangone"
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      "name": "Franco Antoniazzi"
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      "name": "Federico Baronio"
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      "name": "Luisa De Sanctis"
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        9
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      "name": "Aneta Gawlik-Starzyk"
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      "name": "Anna Grandone"
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      "name": "Sabine E. Hannema"
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      "name": "Olaf Hiort"
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      "name": "Paul-Martin Holterhus"
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      "name": "Jana Krenek Malikova"
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      "name": "Giovanna Motta"
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      "name": "Luca Persani"
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    {
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      "name": "Leonidas Phylactou"
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        21
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      "name": "Giulia Rastrelli"
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    {
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        22,
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      "name": "Stefan Riedl"
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      "name": "Vincenzo Rochira"
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      "name": "Patrice Rodien"
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    {
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      "name": "Gianni Russo"
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      "name": "Diego Yeste"
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    {
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      "name": "Martin Wabitsch"
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    {
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        31,
        32
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      "name": "Claus H. Gravholt"
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    {
      "affs": [
        33
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      "name": "Hedi Claahsen - van der Grinten"
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    {
      "affs": [
        0,
        1
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      "name": "Giovanna Mantovani",
      "orcid": "0000-0002-9065-3886"
    }
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  "doi": "10.1007/s40618-026-02990-5",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13722754/",
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  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
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  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
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  "pdf_url": "https://link.springer.com/content/pdf/10.1007/s40618-026-02990-5.pdf",
  "pmcid": "PMC13722754",
  "pmid": "42474686",
  "published": "2026-07-20",
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  "ris": "https://research.draconitic.com/paper/7ydtanftzqy4a.ris",
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      "field": "biochemistry",
      "origin": "openalex:1312|Sexual Differentiation and Disorders",
      "subfield": "molecular-biology"
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  "title": "Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions",
  "title_text": "Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions",
  "type": "peer-reviewed",
  "updated_at": "2026-11-04T12:21:31Z",
  "url": "https://research.draconitic.com/paper/7ydtanftzqy4a",
  "venue": "Journal of Endocrinological Investigation",
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