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与先天性肾上腺增生相关的多发性内分泌肿瘤的双重突变。

Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia.

作者信息

de Oliveira Watrusy Lima, de Aguiar Silva Eloilda Maria, de Melo Oliveira Carlos Eduardo, Alves Filho Wellington, Martins Costa Maria Cecília, Carvalho de Alencar Renata, de Almeida Vieira Carla Antoniana, Pinto Quidute Ana Rosa

出版信息

Endocrinol Diabetes Metab Case Rep. 2025 Jun 6;2025(2). doi: 10.1530/EDM-24-0047. Print 2025 Apr 1.

DOI:10.1530/EDM-24-0047
PMID:40476723
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12150387/
Abstract

SUMMARY

A 39 year old female with signs of hyperandrogenism, was diagnosed with congenital adrenal hyperplasia after a cortrosyn test. Abdominal tomography showed a nodular image in the right adrenal gland, measuring 1.9 × 3.1 cm, 26 UH. Screening for Cushing's syndrome and pheochromocytoma was negative. Due to the maternal family history of MEN2A, RET gene testing was performed (positive), and screening for medullary thyroid carcinoma (MTC) with calcitonin was <2 pg/mL. As the patient's father passed away due to complications of peptic ulcers and hailed from a region with high rates of MEN1, PTH and calcium levels were checked, confirming the diagnosis of primary hyperparathyroidism (pHPT). Genetic investigation for MEN1 was positive, and an MRI of the pituitary gland revealed a non-producing macroadenoma. Management of pHPT and total prophylactic thyroidectomy were recommended, with an expectant approach regarding the adrenal lesion. Histopathological examination of the thyroid revealed papillary microcarcinoma in the right lobe and parafollicular cell hyperplasia in two foci, with immunohistochemistry consistent with MTC.

LEARNING POINTS

There may be the coexistence of three rare and complex genetic syndromes in a single patient. Multiple endocrine neoplasia syndromes describe a group of heterogeneous diseases. Hyperparathyroidism is common among multiple endocrine neoplasia syndromes.

摘要

摘要

一名39岁有高雄激素血症体征的女性，在进行促肾上腺皮质激素试验后被诊断为先天性肾上腺增生。腹部断层扫描显示右肾上腺有一个结节影像，大小为1.9×3.1厘米，26 UH。库欣综合征和嗜铬细胞瘤筛查为阴性。由于其母系家族有MEN2A病史，进行了RET基因检测（结果为阳性），降钙素筛查甲状腺髓样癌（MTC）结果<2 pg/mL。因患者父亲因消化性溃疡并发症去世，且来自MEN1发病率高的地区，检测了甲状旁腺激素（PTH）和钙水平，确诊为原发性甲状旁腺功能亢进症（pHPT）。MEN1基因检测为阳性，垂体磁共振成像显示为无功能大腺瘤。建议对pHPT进行治疗并实施全预防性甲状腺切除术，对肾上腺病变采取观察等待的方法。甲状腺组织病理学检查显示右叶有微小乳头状癌，两个病灶有滤泡旁细胞增生，免疫组化结果符合MTC。

学习要点

单一患者可能同时存在三种罕见且复杂的遗传综合征。多发性内分泌肿瘤综合征描述的是一组异质性疾病。甲状旁腺功能亢进症在多发性内分泌肿瘤综合征中很常见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9390/12150387/0746f5a1845a/EDM-24-0047fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9390/12150387/4f856eb3c2f3/EDM-24-0047fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9390/12150387/4920e1f44033/EDM-24-0047fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9390/12150387/6685899bd97e/EDM-24-0047fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9390/12150387/0746f5a1845a/EDM-24-0047fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9390/12150387/4f856eb3c2f3/EDM-24-0047fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9390/12150387/4920e1f44033/EDM-24-0047fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9390/12150387/6685899bd97e/EDM-24-0047fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9390/12150387/0746f5a1845a/EDM-24-0047fig4.jpg

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本文引用的文献

1
Oral health aspects in sporadic and familial primary hyperparathyroidism.散发性和家族性原发性甲状旁腺功能亢进症的口腔健康问题
J Clin Exp Dent. 2022 May 1;14(5):e396-e403. doi: 10.4317/jced.59527. eCollection 2022 May.
2
Multiple Endocrine Neoplasia Type 1: Latest Insights.多发性内分泌腺瘤病 1 型：最新见解。
Endocr Rev. 2021 Mar 15;42(2):133-170. doi: 10.1210/endrev/bnaa031.
3
Multiple endocrine neoplasia: an update.多发性内分泌肿瘤：更新。
Intern Med J. 2019 Aug;49(8):954-961. doi: 10.1111/imj.14394.
4
A Homozygous RET K666N Genotype With an MEN2A Phenotype.携带有 MEN2A 表型的 RET K666N 纯合子基因型。
J Clin Endocrinol Metab. 2018 Apr 1;103(4):1269-1272. doi: 10.1210/jc.2017-02402.
5
Medullary Thyroid Carcinoma Associated with Germline RET Mutation.与种系RET突变相关的甲状腺髓样癌
Thyroid. 2016 Dec;26(12):1744-1751. doi: 10.1089/thy.2016.0374. Epub 2016 Oct 18.
6
A patient with MEN1 typical features and MEN2-like features.一名具有MEN1典型特征和MEN2样特征的患者。
Int J Endocr Oncol. 2016 May;3(2):89-95. doi: 10.2217/ije-2015-0008. Epub 2016 Apr 8.
7
Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.一个意大利大家族中同时存在多发性内分泌腺瘤 1 型和 2 型。
Endocrine. 2011 Dec;40(3):481-5. doi: 10.1007/s12020-011-9501-2. Epub 2011 Jun 17.
8
[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].[21-羟化酶缺乏所致迟发型先天性肾上腺皮质增生症：文献复习及五对夫妇的孕前基因研究]
Acta Med Port. 2011 Jan-Feb;24(1):99-110. Epub 2011 Feb 28.
9
Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.四个新的 RET 种系突变位于外显子 8 和 11，在体外显示出致癌潜能。
Eur J Endocrinol. 2010 Apr;162(4):771-7. doi: 10.1530/EJE-09-0929. Epub 2010 Jan 26.