Klinefelter syndrome complicated with anti-melanoma differentiation-associated gene 5 antibody positive dermatomyositis:a case report
Chen Xin
Chen Peng
Abstract：Klinefelter syndrome(KS)is a common sex chromosome abnormality in males and the most common cause of congenital male hypogonadism.This paper reports a case of KS combined with dermatomyositis with positive anti-melanoma differentiation-associated gene 5(MDA5)antibody.The patient was a 44-year-old male who presented with bilateral shoulder and knee joint swelling and pain with limb weakness,bilateral periorbital purple rash,sparse pubic hair,short penis,no laryngeal,low testosterone level,elevated follicle-stimulating hormone and luteinizing hormone levels,elevated serum lactate dehydrogenase,positive anti-MDA5 antibody,and a chromosome karyotype of 47,XXY.The patient was diagnosed with KS combined with dermatomyositis with positive anti-MDA5 antibody,and had bilateral femoral head necrosis and osteoporosis.This article reviews the diagnosis and treatment process of the patients,focuses on the potential risk of bone metabolic diseases in these patients,and reminds the first doctor to prevent and monitor the occurrence of bone metabolic diseases,so as to prevent disease before disease and prevent disease from becoming worse,which is very important to improve the quality of life of patients.
Keywords：Klinefelter syndromeAnti-melanoma differentiation-associated gene 5 antibodyDermatomyositis
Publication Date：2024-09-08
Online Publishing Date：2026-09-14(First online date of this platform, not the publication date of the document)
Pages：4( 1398-1401 )