Adult Léri-Weill dyschondrosteosis coexists with endocrinal metabolic disorders: a report of two cases
10.3760/cma.j.cn311282-20210823-00541
- VernacularTitle:成人Léri-Weill软骨骨发育不良伴随内分泌代谢疾病：2例报道
- Author:
Fengye QIN
1
;
Xiaoli WANG
;
Yushu LI
;
Qiuyue WANG
Author Information
1. 中国医科大学附属第一医院内分泌科，内分泌研究所，辽宁省内分泌疾病重点实验室，卫生健康委员会甲状腺疾病重点实验室，沈阳 110001
- Keywords:
SHOX gene;
Léri-Weill dyschondrosteosis;
Short stature
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(5):449-452
- CountryChina
- Language:Chinese
-
Abstract:
Léri-Weill dyschondrosteosis (LWD) has typical triad: short middle limbs, short stature, Madelung deformity of wrist, and increased body mass index. Short stature and high body mass index are risk factors for metabolic syndrome, type 2 diabetes, cardiovascular diseases, and autoimmune thyroid diseases. However, metabolic disorders and thyroid diseases in adult LWD patients have not been elucidated. This paper reports two adult patients with LWD presented to the Department of Endocrinology and metabolism. By introducing clinical characteristics, genetic variations, and diagnostic methods, physicians can deepen their understanding of LWD, improve diagnosis, and be aware of the comorbid metabolic diseases and thyroid disorders with a view of early prevention and treatment.
