<i>KDM1A</i> genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype c
KDM1A germline pathogenic variants are rare in PBMAH and account for <5% of index cases. KDM1A seems constantly associated with FDCS, which can be evoked in front of a morning/midnight plasma cortisol ratio below 0.65.
Authors
- Lucas Bouys (ORCID: https://orcid.org/0000-0003-1743-1598)
- Anna Vaczlavik (ORCID: https://orcid.org/0000-0002-5141-5607)
- Karine Perlemoine
- Jerome Yves Bertherat (ORCID: https://orcid.org/0000-0003-2551-3008)
- Crystal Kamilaris (ORCID: https://orcid.org/0000-0002-3872-0447)
- Martín Reincke (ORCID: https://orcid.org/0000-0002-9817-9875)
- Guillaume Assié (ORCID: https://orcid.org/0000-0001-9590-0906)
- Florian Violon (ORCID: https://orcid.org/0000-0002-7990-3434)
- Amandine Ferrière
- Constantine A. Stratakis (ORCID: https://orcid.org/0000-0002-4058-5520)
- Annabel Berthon (ORCID: https://orcid.org/0000-0002-5576-9525)
- Magalie Haissaguerre (ORCID: https://orcid.org/0000-0001-5007-7602)
- Éric Pasmant (ORCID: https://orcid.org/0000-0002-1881-8762)
- Stéphanie Espiard (ORCID: https://orcid.org/0000-0002-9584-4294)
- Matthias Kroiß (ORCID: https://orcid.org/0000-0002-7628-3161)
- Anne Jouinot (ORCID: https://orcid.org/0000-0002-7922-2065)
- Gérald Raverot (ORCID: https://orcid.org/0000-0002-9517-338X)
- Marie‐Christine Vantyghem (ORCID: https://orcid.org/0000-0002-9369-0463)
- Laurence Guignat (ORCID: https://orcid.org/0000-0003-2782-5750)
- Rossella Libé (ORCID: https://orcid.org/0000-0003-2881-6362)
- Lionel Groussin (ORCID: https://orcid.org/0000-0003-1476-475X)
- Patricia Vaduva (ORCID: https://orcid.org/0000-0003-3195-1629)
- Françoise Borson‐Chazot (ORCID: https://orcid.org/0000-0003-2515-7840)
- Igor Tauveron (ORCID: https://orcid.org/0000-0003-1841-9427)
- Maxime Barat (ORCID: https://orcid.org/0000-0002-0360-0875)
- Maria Candida Barisson Villares Fragoso
- Bruno Ragazzon (ORCID: https://orcid.org/0000-0001-9476-4973)
- Peter Kamenický (ORCID: https://orcid.org/0000-0002-1994-4226)
- Fanny Chasseloup (ORCID: https://orcid.org/0000-0002-2228-9437)
- Albain Chansavang (ORCID: https://orcid.org/0000-0002-9835-2156)
- Helaine Laiz Silva Charchar (ORCID: https://orcid.org/0009-0004-6416-6103)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Universidade de São Paulo (BR)
- Université Paris Cité (FR)
- Université de Lille (FR)
- Université Paris-Saclay (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- LMU Klinikum (DE)
- Hôpital Cochin (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- FORTH Institute of Molecular Biology and Biotechnology (GR)
- Hôpital Cardiologique du Haut-Lévêque (FR)
- Centre Hospitalier Universitaire de Clermont-Ferrand (FR)
- Institute of Molecular Biology and Biotechnology (BG)
- Institut Cochin (FR)
- Hospital Universitário da Universidade de São Paulo (BR)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- Bicêtre Hospital (FR)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1093/ejendo/lvaf016
- Citations
- 10
- Primary Topic
- Pituitary Gland Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 12.95