Open AccessMetabolic syndrome coexists with adult Léri–Weill dyschondrosteosis: A case report
Author(s) -
Wang Dongdong,
Pan Xin,
Wang Xiaoli
Publication year - 2021
Publication title -
journal of diabetes investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.089
H-Index - 50
eISSN - 2040-1124
pISSN - 2040-1116
DOI - 10.1111/jdi.13350
Subject(s) - medicine , short stature , haploinsufficiency , dyslipidemia , diabetes mellitus , type 2 diabetes mellitus , pediatrics , disease , body mass index , metabolic syndrome , endocrinology , genetics , gene , biology , phenotype
Léri–Weill dyschondrosteosis (LWD) is usually caused by haploinsufficiency of the short stature homeobox‐containing gene ( SHOX ). The clinical manifestation of this disease is a classic triad, which are short stature, mesomelia and Madelung deformity. LWD also includes other features, such as high body mass index. Short stature and high body mass index are risk factors of type 2 diabetes mellitus and cardiovascular disease; however, LWD combined with type 2 diabetes mellitus or metabolic syndrome have not been described in the literature. In this article, we report a case of LWD caused by an M1T mutation of the start codon of the SHOX gene. The patient also had type 2 diabetes mellitus, hypertension and dyslipidemia. It is suggested that patients with LWD should be identified promptly, and the prevention and treatment of metabolic diseases and cardiovascular disease should be taken into consideration in patients with LWD.