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

IF 2.9 3区医学 Q3 ENDOCRINOLOGY & METABOLISM

Annales d'endocrinologie Pub Date : 2024-12-27 DOI:10.1016/j.ando.2024.101680

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

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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.

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塔顿-布朗-拉赫曼综合征：一种新的智力残疾多发性内分泌瘤变综合征？

我们描述了一个妇女的情况下首次提出与塔顿-布朗-拉赫曼综合征（TBRS）和多发性内分泌瘤（MEN）。她13岁时出现原发性甲状旁腺功能亢进，14岁时出现垂体囊肿，21岁时出现肾上腺肿瘤，34岁时出现转移性胰岛素瘤。此外，她还表现出智力障碍、肥胖、多发性脂肪瘤、面部畸形、半肥厚和脊柱后凸。在35岁时，基因组分析显示一种致病性去新生杂合生殖系DNMT3A变异，而通过针对性的体细胞和生殖系基因检测排除了经典的MEN综合征。该病例不仅强调了基因组分析在多种和非典型疾病患者中的重要性，而且还强调了对包括成年期在内的TBRS患者采用多学科方法的必要性，包括内分泌学家，以加强对该综合征的理解和优化监测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annales d'endocrinologie 医学-内分泌学与代谢

CiteScore

4.40

自引率

6.50%

发文量

311

审稿时长

50 days

期刊介绍： The Annales d''Endocrinologie, mouthpiece of the French Society of Endocrinology (SFE), publishes reviews, articles and case reports coming from clinical, therapeutic and fundamental research in endocrinology and metabolic diseases. Every year, it carries a position paper by a work-group of French-language endocrinologists, on an endocrine pathology chosen by the Society''s Scientific Committee. The journal is also the organ of the Society''s annual Congress, publishing a summary of the symposia, presentations and posters. "Les Must de l''Endocrinologie" is a special booklet brought out for the Congress, with summary articles that are always very well received. And finally, we publish the high-level instructional courses delivered during the Henri-Pierre Klotz International Endocrinology Days. The Annales is a window on the world, keeping alert clinicians up to date on what is going on in diagnosis and treatment in all the areas of our specialty.