[Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(5): 514-518, 2017 May.
Article
em Zh
| MEDLINE
| ID: mdl-28506340
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 P3-P10 and precocious puberty. Patients with PWS have various endocrine disorders, so long-term endocrine follow-up and management is very important.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Prader-Willi
Limite:
Child
/
Child, preschool
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Female
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Humans
Idioma:
Zh
Ano de publicação:
2017
Tipo de documento:
Article