Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases.
- Author:
Mo-Ling WU
1
;
Juan LI
;
Yu DING
;
Yao CHEN
;
Guo-Ying CHANG
;
Xiu-Min WANG
;
Jian WANG
;
Yi-Ping SHEN
Author Information
1. Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. wangxiumin1019@126.com.
- Publication Type:Case Reports
- MeSH:
Child;
Child, Preschool;
Endocrine Glands;
physiopathology;
Female;
Glucose Tolerance Test;
Humans;
Prader-Willi Syndrome;
genetics;
physiopathology
- From:
Chinese Journal of Contemporary Pediatrics
2017;19(5):514-518
- CountryChina
- Language:Chinese
-
Abstract:
This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11.2-q13 region. All patients had varying degrees of endocrine and metabolic disorders: 2 patients had short stature, among whom one had delayed appearance of secondary sex characteristics and the other one had type 2 diabetes; one patient had insulin resistance and no mammary gland development; one patient had a body height of P-Pand precocious puberty. Patients with PWS have various endocrine disorders, so long-term endocrine follow-up and management is very important.
