4例女性Prader-Willi综合征患儿的内分泌代谢特点

Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases

摘要:

4例Prader-Willi综合征（PWS）患儿均为女性，确诊年龄6~12岁，均有肥胖，特殊面容，发育迟缓、智力障碍等临床表现，遗传学检测提示其中2例为15q11.2-q13区域父源性缺失，1例为15q11.2-q13区域母源性同源二倍体，1例15q11.2-q13区域未发现异常。4例患者存在不同程度的内分泌代谢紊乱：2例身材矮小，其中1例第二性征延迟，另1例合并2型糖尿病；1例表现为胰岛素抵抗，无乳腺发育；1例患儿的身高处于P₃~P₁₀，性早熟。PWS患者存在多种内分泌功能紊乱，长期内分泌专科随访及管理十分重要。

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.