RAI-HSENG HSULin W.-D.Chao M.-C.Hsiao H.-P.Wong S.-L.Chiu P.-C.Chu S.-Y.Ke Y.-Y.Lau B.-H.YIN-HSIU CHIENWUH-LIANG HWUTsai F.-J.Wang C.-H.NI-CHUNG LEE2020-12-092020-12-0920190929-6646https://www.scopus.com/inward/record.uri?eid=2-s2.0-85042328704&doi=10.1016%2fj.jfma.2018.02.003&partnerID=40&md5=78c721194eeef5daa01e30c14ed74ea5https://scholars.lib.ntu.edu.tw/handle/123456789/525086Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. Methods: Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and molecular testing were retrospectively analyzed. Results: A total of 16 patients were analyzed, and the current median age was 3.5 years (range, 9 months-17.5 years). In all patients, molecular results confirmed BSCL2 mutation. c.782dupG (p.Ile262Hisfs*12) was the most common genotype identified. All patients had triangular faces and muscular hypertrophy. In addition, 75% presented with hepatomegaly, 19% had cardiomegaly, and 44% exhibited acanthosis nigricans. Developmental delay was noted in 5 out of 9 patients (56%) with a median developmental quotient (DQ)/intelligence quotient (IQ) of 61. Thirteen patients (81.3%) had high triglyceride levels. Eight patients received leptin analysis, and 7 of them (88%) had low leptin levels. One patient exclusively received a lipid-lowering drug, 4 patients were exclusively placed on a fat-restricted diet, 5 patients were administered combination therapy, and 5 patients received no treatment. Three patients (19%) who developed diabetes mellitus received both oral hypoglycemic agents and insulin. Three patients (19%) experienced loss of ambulation and died prematurely. Conclusion: Our findings highlight the uniqueness of the genotype and phenotype in our cohort. Further long-term surveillance for comorbidities is necessary for early detection and management of these patients. ? 2018[SDGs]SDG3fenofibrate; genomic DNA; insulin; leptin; metformin; pioglitazone; triacylglycerol; BSCL2 protein, human; guanine nucleotide binding protein gamma subunit; acanthosis nigricans; adolescent; Article; atrial fibrillation; bscl2 gene; cardiomegaly; child; clinical article; congenital disorder; congenital generalized lipodystrophy; developmental delay; diabetes mellitus; face malformation; female; gene mutation; genotype; heart arrest; hepatomegaly; hormone determination; human; hyperglycemia; hyperinsulinemia; hypoxic ischemic encephalopathy; infant; insulin treatment; intelligence quotient; low fat diet; male; muscle hypertrophy; phenotype; pleura effusion; pneumonia; prognosis; respiratory failure; school child; seizure; Taiwan; triacylglycerol level; weakness; Asian continental ancestry group; clinical trial; complication; congenital generalized lipodystrophy; genetics; multicenter study; mutation; phenotype; preschool child; retrospective study; Acanthosis Nigricans; Adolescent; Asian Continental Ancestry Group; Cardiomegaly; Child; Child, Preschool; Female; Genotype; GTP-Binding Protein gamma Subunits; Humans; Infant; Lipodystrophy, Congenital Generalized; Male; Mutation; Phenotype; Retrospective Studies; Taiwanjournal article10.1016/j.jfma.2018.02.003294787472-s2.0-85042328704