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Background <p>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.</p> Methods <p>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.</p> Results <p>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. </p> Conclusions <p>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.</p>

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Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月20日

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  • Eriselda Profka,
  • Alessandra Mangone,
  • Franco Antoniazzi,
  • Federico Baronio,
  • Giuseppe Bellastella,
  • Walter Bonfig,
  • Martine Cools,
  • Régis Coutant,
  • Luisa De Sanctis,
  • Aneta Gawlik-Starzyk,
  • Anna Grandone,
  • Sabine E. Hannema,
  • Olaf Hiort,
  • Paul-Martin Holterhus,
  • Jana Krenek Malikova,
  • Giovanna Motta,
  • Luca Persani,
  • Leonidas Phylactou,
  • Giulia Rastrelli,
  • Stefan Riedl,
  • Vincenzo Rochira,
  • Patrice Rodien,
  • Gianni Russo,
  • Diego Yeste,
  • Martin Wabitsch,
  • Claus H. Gravholt,
  • Hedi Claahsen - van der Grinten,
  • Giovanna Mantovani

摘要

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.

Methods

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.

Results

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.

Conclusions

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.