Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants
Functional hyposplenism was frequent in this cohort of patients carrying NR5A1 variants, regardless of genotype and gonadal phenotype. Assessing splenic function is mandatory to help manage these patients. Preventive measures are also critical when hyposplenism is present.
Authors
- Abd El Kader Ait Tayeb (ORCID: https://orcid.org/0000-0001-6432-1098)
- Khadidja Fouatih (ORCID: https://orcid.org/0009-0009-8794-4138)
- Anne-Sophie Lambert (ORCID: https://orcid.org/0000-0002-4232-3882)
- Imen Belguith (ORCID: https://orcid.org/0000-0001-9756-3480)
- Pierre Buffet (ORCID: https://orcid.org/0000-0003-4010-929X)
- Zeina Chakhtoura (ORCID: https://orcid.org/0009-0009-9109-560X)
- Stéphanie Franchi‐Abella (ORCID: https://orcid.org/0000-0002-3200-751X)
- Muriel Houang
- Maxime Abellan Lopez (ORCID: https://orcid.org/0000-0003-4102-9574)
- Jérôme Bouligand (ORCID: https://orcid.org/0000-0002-8691-9469)
- Barbara Girerd
- E. P. Belozertseva
- Lise Duranteau
- Maryse Cartigny
- Delphine Borgel (ORCID: https://orcid.org/0000-0002-8847-8935)
- Camille Roussel (ORCID: https://orcid.org/0000-0003-0194-7696)
- Claire Bouvattier
- K. Chappell
- Trouvin Marie-Agathe
Institutions
- Délégation Paris 5 (FR)
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Université Paris-Saclay (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Sorbonne Université (FR)
- Hôpital Armand-Trousseau (FR)
- Lille’s Cardiology Hospital (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Laboratoire National de Référence (MA)
- Pitié-Salpêtrière Hospital (FR)
- Centre d'Immunologie et des Maladies Infectieuses (FR)
- Bicêtre Hospital (FR)
Publication Details
- Journal
- Endocrine Connections
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1530/ec-25-0549
- Primary Topic
- Abdominal Trauma and Injuries
- Type
- article
- Field-Weighted Citation Impact
- 0.00