[Prepubertal gynecomastia at the debut of hereditary tumors predisposition syndrome (clinical case reports)].

Q4 Medicine
M A Kareva, L S Sozaeva, I S Chugunov, V A Peterkova, S D Mikhalina
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引用次数: 0

Abstract

Peutz-Jeghers Syndrome (Peutz-Jeghers Syndrome, PJS) refers to syndromes of hereditary tumor predisposition and is caused by pathological variants of the STK11 gene, leading to a defect in the synthesis of serine/threonine kinase 11 protein, which acts as a tumor suppressor.Clinical symptoms of the syndrome are combination of hamartomatous polyposis of the gastrointestinal tract and specific skin-mucosal hyperpigmentation. Also, this disease is characterized by a high risk of developing gastrointestinal and extra-intestinal tumors, including benign or malignant tumors of the reproductive system.One of the first signs of the disease in male patients may be prepubertal gynecomastia associated with large-cell calcifying Sertoli cells tumors expressing aromatase. In contrast to from pubertal gynecomastia, prepubertal is extremely rare, and it is often based on pathological causes. Early diagnosis of patients with pre-pubertal gynecomastia, including Peitz-Jaegers syndrome, defines the tactics of gynecomastia management and protocols for monitoring the development of other components of the disease in the future.This article describes two patients with pre-pubertal gynecomastia and Peitz-Jaegers syndrome with different molecular genetic defects: in one case associated with duplication of the STK11 gene site, in the other - with microdeletion of the short arm of chromosome 19 containing this gene.

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[遗传性肿瘤易感综合征首次出现的青春期前女性乳房发育症(临床病例报告)]。
Peutz-Jeghers综合征是指遗传性肿瘤易感性综合征,由STK11基因的病理变异引起,导致丝氨酸/苏氨酸激酶11蛋白的合成缺陷,该蛋白起到肿瘤抑制作用。该综合征的临床症状是胃肠道错构瘤性息肉病和特定的皮肤粘膜色素沉着。此外,这种疾病的特点是发生胃肠道和肠外肿瘤的风险很高,包括生殖系统的良性或恶性肿瘤。男性患者出现这种疾病的最初迹象之一可能是与表达芳香化酶的大细胞钙化支持细胞肿瘤相关的青春期前女性乳房发育症。与青春期女性乳房发育症不同,青春期前是极为罕见的,而且通常是基于病理原因。对青春期前女性乳房发育症(包括Peitz-Jaegers综合征)患者的早期诊断,定义了女性乳房发育管理策略和监测未来疾病其他组成部分发展的方案。本文描述了两名具有不同分子遗传缺陷的青春期前女性乳房发育症和Peitz-Jaegers综合征患者:一例与STK11基因位点的重复有关,另一例与含有该基因的19号染色体短臂的微缺失有关。
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来源期刊
Problemy endokrinologii
Problemy endokrinologii Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
1.40
自引率
0.00%
发文量
59
期刊介绍: Since 1955 the “Problems of Endocrinology” (or “Problemy Endocrinologii”) Journal publishes timely articles, balancing both clinical and experimental research, case reports, reviews and lectures on pressing problems of endocrinology. The Journal is aimed to the most topical issues of endocrinology: to chemical structure, biosynthesis and metabolism of hormones, the mechanism of their action at cellular and molecular level; pathogenesis and to clinic of the endocrine diseases, new methods of their diagnostics and treatment. The Journal: features original national and foreign research articles, reflecting world endocrinology development; issues thematic editions on specific areas; publishes chronicle of major international congress sessions and workshops on endocrinology, as well as state-of-the-art guidelines; is intended for scientists, endocrinologists diabetologists and specialists of allied trade, general practitioners, family physicians and pediatrics.
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