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.