Tatton-Brown-Rahman syndrome: a new multiple endocrine neoplasia syndrome with intellectual disability?

Lauriane Le Collen; Théo Charnay; Sang Ly; Brigitte Delemer; Arnaud Lagarde; Giuliana Ascone; Adrian F Daly; Anne Barlier; Pauline Romanet; AURAGEN consortium

doi:10.1016/j.ando.2024.101680

Tatton-Brown-Rahman syndrome: a new multiple endocrine neoplasia syndrome with intellectual disability?

Ann Endocrinol (Paris). 2024 Dec 27:101680. doi: 10.1016/j.ando.2024.101680. Online ahead of print.

Authors

Affiliations

¹ Inserm/CNRS UMR 1283/8199, Institut Pasteur de Lille, EGID, Lille University Hospital, Lille, France; University of Lille, Lille, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, Nancy University Hospital, Nancy, France; Department of Endocrinology Diabetology, University of Reims, Reims, France; Department of Clinical Genetics, University of Reims, Reims, France.
² Aix Marseille Univ, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, Marseille, France. Electronic address: [email protected].
³ Department of Endocrinology Diabetology, University of Reims, Reims, France.
⁴ Aix Marseille Univ, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, Marseille, France. Electronic address: [email protected].
⁵ Aix Marseille Univ, INSERM, MMG, Marseille, France.
⁶ Department of Endocrinology, Centre Hospitalier Universitaire (CHU) de Liège, University of Liège, Domaine Universitaire Sart Tilman, 4000 Liège, Belgium.
⁷ Department of Endocrinology Diabetology, University of Reims, Reims, France. Electronic address: [email protected].
⁸ Department of Endocrinology Diabetology, University of Reims, Reims, France. Electronic address: [email protected].
⁹ GCS AURAGEN, 69003 Lyon, France.

PMID: 39734048
DOI: 10.1016/j.ando.2024.101680

Abstract

We describe for the first time the case of a woman presenting with Tatton-Brown-Rahman syndrome (TBRS) and multiple endocrine neoplasia (MEN). She developed primary hyperparathyroidism at age 13, a pituitary cyst at age 14, adrenal tumor at age 21, and metastatic insulinoma at age 34. In addition, she showed intellectual disability, obesity, multiple lipomas, facial dysmorphia, hemihypertrophy and kyphoscoliosis. At age 35, genome analysis revealed a pathogenic de-novo heterozygous germline DNMT3A variant, while classic MEN syndromes were ruled out by targeted somatic and germline genetic testing. This case highlights not only the importance of genomic analysis in patients with multiple and atypical conditions, but also the need for a multidisciplinary approach for TBRS patients, including in adulthood, involving endocrinologists to enhance understanding and optimize monitoring of this syndrome.

Keywords: MEN1; Tatton-Brown-Rahman syndrome; kyphoscoliosis; multiple endocrine neoplasia; overgrowth; whole genome sequencing.

Publication types

Letter