更新于：2024-11-01

Short Stature, Idiopathic, Autosomal

常染色体遗传性特发性身材矮小

更新于：2024-11-01

基本信息

别名

GHDP、GHIP、GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL

+ [5]

简介-

关联

项与常染色体遗传性特发性身材矮小相关的药物

Recombinant human growth hormone(Changchun Genescience)

重组人生长激素(长春金赛)

靶点

GHR

作用机制

GHR激动剂

在研机构

原研机构

在研适应症

非在研适应症

最高研发阶段批准上市

首次获批国家/地区

中国

首次获批日期1998-01-01

AK2017

靶点

作用机制

GR激动剂

在研机构

安徽安科生物工程（集团）股份有限公司

原研机构

安徽安科生物工程（集团）股份有限公司

在研适应症

生长激素缺乏症 [+3]

非在研适应症-

最高研发阶段临床2期

首次获批国家/地区-

首次获批日期1800-01-20

100 项与常染色体遗传性特发性身材矮小相关的临床结果

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100 项与常染色体遗传性特发性身材矮小相关的转化医学

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0 项与常染色体遗传性特发性身材矮小相关的专利（医药）

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125

项与常染色体遗传性特发性身材矮小相关的文献（医药）

2024-03-08·Zhonghua bing li xue za zhi = Chinese journal of pathology

[Gastric hamartomatous inverted polyps: a clinicopathological analysis of five cases].

Article

作者: Hong, M ; Lin, X F ; Yang, H F ; Zhao, J ; Zhang, Z F ; Du, Z H

目的： 探讨胃错构瘤性内翻性息肉（gastric hamartomatous inverted polyp，GHIP）的内镜特征、组织病理学特征、诊断及鉴别诊断。 方法： 收集并观察广东省中医院大学城医院病理科2021年5月至2023年5月诊断的5例GHIP内镜特征及病理形态特点和免疫组织化学结果，复习相关文献进行分析。 结果： 收集的GHIP患者中男性3例，女性2例，发病年龄49~60岁，平均年龄56岁。病变位于胃底及胃体，内镜下表现为息肉或黏膜下隆起外观。显微镜下病变主要位于黏膜下层，由分叶状或簇状增生的胃型腺上皮及增生的平滑肌包绕构成，部分区域可见模拟正常胃黏膜的分化层次的腺体成分，表现为中央不规则扩张的腺体成分为增生的小凹型上皮，而周围的腺体为胃底腺或幽门腺成分；另见部分区域腺体明显囊状扩张，排列紊乱，缺乏分化层次。增生的腺上皮成分包括小凹型上皮、胃底腺及幽门腺，并散在存在神经内分泌细胞，间质见增生的平滑肌组织。免疫组织化学结果显示病变内各种腺上皮分别表达MUC5AC、MUC6、PepsinogenⅠ、H⁺/K⁺ ATPase β，未见MUC2表达，散在分布的神经内分泌细胞显示突触素阳性，结蛋白显示增生的平滑肌组织。1例归类为2型胃内翻性息肉，4例归类为3型。 结论： GHIP是一种罕见的胃息肉病变，具有特殊的组织学形态特点，需与内翻性增生性息肉、深在性囊性胃炎、腺肌瘤、增生性息肉、胃高分化管状腺癌等病变相鉴别，提高对其的准确认识可避免误诊或过诊的发生。.

2024-02-01·Cureus

Rathke’s Cleft Cyst Leads to Stunted Growth in Children: A Case Report Written With the Help of ChatGPT

作者: Huang, Huanxiang ; Li, Ziqi ; Xiao, Yong ; Wang, Shousen ; Li, Jun

In recent times, ChatGPT has become a globally renowned AI tool, revolutionizing academic research by offering innovative methods and opportunities. The integration of AI into various domains is a prevailing topic, focusing on optimizing its utility. This article presents a case study of a child with Rathke's cyst, primarily exhibiting symptoms of growth and developmental delay. The patient's self-perception of stunted growth, coupled with previous assessments indicating partial growth hormone deficiency, prompted further investigation. Laboratory assessments revealed low growth hormone and insulin-like growth factor levels, while imaging disclosed a pituitary lesion. Rathke's cyst was postulated as the probable cause of the growth hormone deficiency. Rathke's cyst remains a rare medical condition with substantial research knowledge gaps. In this article, we synergize ChatGPT responses with a comprehensive case report of a child with Rathke's cyst as the primary symptom-growth and developmental delay. We explore the methods and feasibility of employing ChatGPT within this case report.

2024-01-29·Journal of Pediatric Endocrinology and Metabolism

Ambulatory blood pressure monitorisation in children with recombinant growth hormone treatment

Article

作者: Aytaç Kaplan, Emel Hatun ; Onal, Hasan ; Kocabey Sütçü, Zümrüt ; Soyaltın, Eren

AbstractObjectivesIt is safe to use recombinant growth hormone in children. Studies have shown it to be effective and safe, except for a few side effects in the short and long term after treatment. The present study investigated the presence of hypertension in pediatric patients receiving growth hormone treatment using 24 h ambulatory blood pressure monitoring (ABPM).MethodsThis study is a single-center, retrospective study. Eighty-four patients aged 5–16 years who received growth hormone treatment for at least 3 months, who underwent 24 h ABPM were analyzed. They were compared with 67 patients who had no risk factors for hypertension.ResultsIn the study, 84 rhGH-treated patients (45.2 % male, 54.8 % female) and 67 healthy control groups (49.3 % male, 50.7 % female) were analyzed. The mean age of the patient group was 10.83±2.85 years and the mean age of the healthy control group was 13.1±2.93 years. The diagnostic classification of the patients receiving treatment was as follows: 66.6 % (n=56) partial growth hormone deficiency, 22.6 % (n=19) growth hormone deficiency, 7.1 % (n=6) bioactive growth hormone, 2.3 % (n=2) idiopathic short stature, 1.1 % (n=1) low birth weight for gestational age (SGA). Body mass index was significantly lower in the treated group (p=0.013). The duration of treatment was 6.04±4.9 months. Daytime diastolic blood pressure was significantly lower in the treated group (p=0.001). There was no correlation between BMI and ABPM parameters in the treatment group and the control group.ConclusionsThe present study shows that growth hormone treatment is safe in terms of high blood pressure.