Secondary diabetes mellitus in Prader-Willi syndrome

作者: Xiaoli Yao , Juan Liu , Chuqi Gao

DOI: 10.1007/S13410-021-00936-6

关键词:

摘要: Prader-Willi Syndrome (PWS) is a rare autosomal dominant disorder on the 15q11.2-q13 chromosome. PWS may impact metabolic, endocrine, and neurologic systems combine with hypotonia, sleep disturbances, cognitive disability, central adrenal insufficiency, hypothyroidism, hypogonadism, short stature, other diseases. Here ,we report patient secondary diabetes mellitus. Clinical laboratory features are summarized. The had typical manifestations of including almond-shaped eyes, narrow temples, nasal bridge, hands feet. Lab test revealed hypogonadism growth hormone deficiency. SNP array one copy chromosome 15 q11.2q13.1 was missing, length about 6.4 mbp. This case emphasizes importance considering in differential diagnosis an adolescent diabetes. Antenatal history neonatal hypotonia childhood feeding keys to PWS.

参考文章(34)
Ann O. Scheimann, Phillip D. K. Lee, Kenneth J. Ellis, Gastrointestinal System, Obesity, and Body Composition Springer New York. pp. 153- 200 ,(2006) , 10.1007/978-0-387-33536-0_6
Merlin G Butler, Management of obesity in Prader-Willi syndrome. Nature Clinical Practice Endocrinology & Metabolism. ,vol. 2, pp. 592- 593 ,(2006) , 10.1038/NCPENDMET0320
Silvia Longhi, Graziano Grugni, Davide Gatti, Emiliano Spinozzi, Alessandro Sartorio, Silvano Adami, Antonio Fanolla, Giorgio Radetti, Adults with Prader-Willi syndrome have weaker bones: effect of treatment with GH and sex steroids. Calcified Tissue International. ,vol. 96, pp. 160- 166 ,(2015) , 10.1007/S00223-014-9949-1
Suzanne B. Cassidy, Stuart Schwartz, Jennifer L. Miller, Daniel J. Driscoll, Prader-Willi syndrome Genetics in Medicine. ,vol. 14, pp. 10- 26 ,(2011) , 10.1038/GIM.0B013E31822BEAD0
Jennifer L. Miller, Tiffany D. Linville, Elisabeth M. Dykens, Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: a pilot study. Journal of Pediatric Endocrinology and Metabolism. ,vol. 27, pp. 23- 29 ,(2014) , 10.1515/JPEM-2013-0116
PETER J. CAMPBELL, JOHN E. GERICH, Impact of Obesity on Insulin Action in Volunteers with Normal Glucose Tolerance: Demonstration of a Threshold for the Adverse Effect of Obesity The Journal of Clinical Endocrinology and Metabolism. ,vol. 70, pp. 1114- 1118 ,(1990) , 10.1210/JCEM-70-4-1114
G Diene, E Mimoun, E Feigerlova, S Caula, C Molinas, H Grandjean, M Tauber, French Reference Centre for PWS, Endocrine disorders in children with Prader-Willi Syndrome - data from 142 children of the French database. Hormone Research in Paediatrics. ,vol. 74, pp. 121- 128 ,(2010) , 10.1159/000313377
Susan E. Myers, Aaron L. Carrel, Barbara Y. Whitman, David B. Allen, Sustained benefit after 2 years of growth hormone on body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome. The Journal of Pediatrics. ,vol. 137, pp. 42- 49 ,(2000) , 10.1067/MPD.2000.105369
Zehra Aycan, Veysel Nijat Baş, Prader-Willi syndrome and growth hormone deficiency. Journal of Clinical Research in Pediatric Endocrinology. ,vol. 6, pp. 62- 67 ,(2014) , 10.4274/JCRPE.1228
Urs Eiholzer, Jürgen Grieser, Michael Schlumpf, Dagmar l’Allemand, Clinical effects of treatment for hypogonadism in male adolescents with Prader-Labhart-Willi syndrome. Hormone Research in Paediatrics. ,vol. 68, pp. 178- 184 ,(2007) , 10.1159/000100925