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

@article{profka2026current,
  title = {{Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions}},
  author = {Eriselda Profka and Alessandra Mangone and Franco Antoniazzi and Federico Baronio and Giuseppe Bellastella and Walter Bonfig and Martine Cools and Régis Coutant and Luisa De Sanctis and Aneta Gawlik-Starzyk and Anna Grandone and Sabine E. Hannema and Olaf Hiort and Paul-Martin Holterhus and Jana Krenek Malikova and Giovanna Motta and Luca Persani and Leonidas Phylactou and Giulia Rastrelli and Stefan Riedl and Vincenzo Rochira and Patrice Rodien and Gianni Russo and Diego Yeste and Martin Wabitsch and Claus H. Gravholt and Hedi Claahsen - van der Grinten and Giovanna Mantovani},
  journal = {Journal of Endocrinological Investigation},
  year = {2026},
  month = jul,
  doi = {10.1007/s40618-026-02990-5},
  url = {https://doi.org/10.1007/s40618-026-02990-5},
  note = {CC BY 4.0},
}

TY  - JOUR
TI  - Current clinical care for women with complete androgen insensitivity syndrome across the European reference network on rare endocrine conditions
AU  - Eriselda Profka
AU  - Alessandra Mangone
AU  - Franco Antoniazzi
AU  - Federico Baronio
AU  - Giuseppe Bellastella
AU  - Walter Bonfig
AU  - Martine Cools
AU  - Régis Coutant
AU  - Luisa De Sanctis
AU  - Aneta Gawlik-Starzyk
AU  - Anna Grandone
AU  - Sabine E. Hannema
AU  - Olaf Hiort
AU  - Paul-Martin Holterhus
AU  - Jana Krenek Malikova
AU  - Giovanna Motta
AU  - Luca Persani
AU  - Leonidas Phylactou
AU  - Giulia Rastrelli
AU  - Stefan Riedl
AU  - Vincenzo Rochira
AU  - Patrice Rodien
AU  - Gianni Russo
AU  - Diego Yeste
AU  - Martin Wabitsch
AU  - Claus H. Gravholt
AU  - Hedi Claahsen - van der Grinten
AU  - Giovanna Mantovani
PY  - 2026
DA  - 2026/07/20
JO  - Journal of Endocrinological Investigation
DO  - 10.1007/s40618-026-02990-5
UR  - https://doi.org/10.1007/s40618-026-02990-5
AB  - 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.  Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s40618-026-02990-5.
SN  - 0391-4097
SN  - 1720-8386
ER  -