Endocrinology Department (E.S.), IM Sechenov First Moscow State Medical University, 119991 Moscow, Russia; Outpatient Clinic (E.F.), Gastroenterology Department (D.R., S.P.), and Healthy and Sick Child Nutrition Department (E.R.), Scientific Center for Children's Health, 119991 Moscow, Russia; Department and Laboratory of Inherited Endocrine Disorders (E.V., V.P., A.T.), Endocrinology Research Centre, 117036 Moscow, Russia; and Laboratory of Molecular Endocrinology of Medical Scientific Educational Centre of Lomonosov (A.T.), Moscow State University, 119991 Moscow, Russia.
J Clin Endocrinol Metab. 2016 Apr;101(4):1344-7. doi: 10.1210/jc.2015-3722. Epub 2016 Feb 18.
We describe APS1 in a boy with generalized lipodystrophy, oral candidiasis, autoimmune hepatitis and adrenal insufficiency. It is the first time when generalized lipodystrophy is associated with APS1.
我们描述了一名患有全身性脂肪营养不良、口腔念珠菌病、自身免疫性肝炎和肾上腺功能不全的男孩的 APS1 病例。这是全身性脂肪营养不良与 APS1 首次相关联。
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