[en] 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.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Le Collen, Lauriane; 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
Charnay, Théo; Aix Marseille Univ, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, Marseille, France. Electronic address: theo.charnay@univ-amu.fr
Ly, Sang; Department of Endocrinology Diabetology, University of Reims, Reims, France
Delemer, Brigitte; Department of Endocrinology Diabetology, University of Reims, Reims, France
Lagarde, Arnaud; Aix Marseille Univ, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, Marseille, France. Electronic address: Arnaud.largarde@ap-hm.fr
Ascone, Giuliana; Aix Marseille Univ, INSERM, MMG, Marseille, France
Daly, Adrian ; Université de Liège - ULiège > Département des sciences cliniques
Barlier, Anne; Department of Endocrinology Diabetology, University of Reims, Reims, France. Electronic address: anne.barlier@univ-amu.fr
Romanet, Pauline; Department of Endocrinology Diabetology, University of Reims, Reims, France. Electronic address: Pauline.romanet@univ-amu.fr
AURAGEN consortium
Language :
English
Title :
Tatton-Brown-Rahman syndrome: a new multiple endocrine neoplasia syndrome with intellectual disability?
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