Basheer Riyas, Jalal Muhammed Jasim Abdul, Gomez Ramesh
Department of Family Medicine, Lakeshore Hospital and Research Centre, Ernakulam, Kerala, India.
Department of Endocrinology, Lakeshore Hospital and Research Centre, Ernakulam, Kerala, India.
J Family Med Prim Care. 2016 Jan-Mar;5(1):181-3. doi: 10.4103/2249-4863.184661.
Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m(2). He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases.
普拉德-威利综合征（PWS）是一种复杂的遗传性疾病，其特征为新生儿肌张力减退、发育迟缓、身材矮小、儿童期肥胖、性腺功能减退以及特征性面部容貌。在此，我们报告一名21岁男性，他出现血糖控制不佳的情况。他15岁时被诊断为糖尿病，伴有渗透性症状——多尿、多饮和多食。在诊断后的早期，他通过口服降糖药血糖得到了合理控制。然而，一年前，由于口服降糖药继发性失效，他转而接受胰岛素治疗。检查时，他的体重指数为36kg/m²。他有双侧乳腺增生、双顶径减小、杏仁状眼伴内斜视。他存在性腺功能减退，也有轻度认知障碍。他没有任何近端肌病或其他局灶性神经功能缺损。激素评估显示睾酮水平低，荧光原位杂交结果显示性腺功能减退但正常，提示为中枢性性腺功能减退。伴有胎儿和新生儿期肌张力减退、发育里程碑延迟、性腺功能减退以及早发性糖尿病，他符合PWS的临床诊断标准。临床医生采用多学科方法并结合家庭和社会支持，对于此类综合征病例取得最佳治疗效果至关重要。
