A case of Madelung's disease accompanied by Klinefelter's syndrome

[摘要] Madelung’s disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis.The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrialDNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-yearhistory of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido. He was not analcohol consumer. His family history was unremarkable. Physical examination revealed that he had a eunuchoid body shape.There was a symmetric excess fat accumulation in his submandibular, deltoid, nuchal, suprapubic and inguinal areas.He was diagnosed with Madelung’s disease, and imaging studies supported the diagnosis. Hormonal evaluation revealeda hypergonadotropic hypogonadism. Karyotype analysis revealed a 47,XXY mutation. Genetic research showed nomitochondrial DNA mutation. Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liverdisease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitivedisorders, may accompany Madelung’s disease. The present study represents the first reported case of Madelung’s diseaseaccompanied by Klinefelter’s syndrome.

[学科分类] 血液学

[关键词] Adult;Male;White;Turkey;Adipose tissue;Andrology;Klinefelter syndrome;Diabetes mellitus type 1;Lipomatosis;Hypogonadism;Micropenis;Oedema;Retinopathy;Diabetic neuropathy;FSH;LH;Testosterone;Oestradiol (E2);SHBG;C-peptide (blood);C-reactive protein;Albumin;Chromosomal analysis;MRI;CT scan;Biopsy;Ultrasound scan;Testosterone;Fenofibrate;Genetics;Unique/unexpected symptoms or presentations of a disease;April;2015