[A case of type A insulin resistance syndrome]

L Y Zhu; T S Ma; X J Li; X Y Chang; K Sun; H B Zhang; Yuxiu Li

doi:10.3760/cma.j.cn112138-20211208-00870

[A case of type A insulin resistance syndrome]

Zhonghua Nei Ke Za Zhi. 2022 Nov 1;61(11):1253-1256. doi: 10.3760/cma.j.cn112138-20211208-00870.

[Article in Chinese]

Authors

L Y Zhu¹, T S Ma¹, X J Li², X Y Chang¹, K Sun¹, H B Zhang³, Yuxiu Li³

Affiliations

¹ Department of Endocrinology and Metabolism, the First Affiliated Hospital, School of Medicine, Shihezi University, Shihezi 832008, China.
² Department of Neurology, the First Affiliated Hospital, School of Medicine, Shihezi University, Shihezi 832008, China.
³ Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key Laboratory of Endocrinology of National Health Commission, Beijing 100730, China.

PMID: 36323568
DOI: 10.3760/cma.j.cn112138-20211208-00870

Abstract

A型胰岛素抵抗综合征是罕见的胰岛素受体基因突变引起的常染色体显性遗传病，表现为黑棘皮、严重胰岛素抵抗，但血甘油三酯正常，女性可表现为多囊卵巢综合征和高雄激素血症。本文报道1例青少年女性，以月经不规律、黑棘皮、严重胰岛素抵抗及血甘油三酯正常为特点，通过基因检测诊断为胰岛素受体杂合突变导致的A型胰岛素抵抗综合征，随访2年余，控制满意。提示严重胰岛素抵抗患者采用适宜的诊疗流程可帮助这些疑难患者得到确诊。.

Publication types

Case Reports

MeSH terms

Diabetes Mellitus*
Diabetes Mellitus, Type 2*
Humans
Insulin
Insulin Resistance*
Metabolic Syndrome*

Substances

Insulin