Prader-Willi综合征(PWS)是一种罕见的遗传性疾病,由于缺乏父系来源的染色体15q11-13的表达,与几种并发症有关,包括青春期障碍,身材矮小,食欲亢进,肥胖,葡萄糖代谢异常,脊柱侧弯,阻塞性睡眠呼吸暂停综合征(OSAS)和行为问题。我们报告了一例受PWS影响的女孩,该女孩在5.9岁时出现早熟性早熟,加速线性生长和晚期骨龄(BA)。随后,她被诊断为非经典先天性肾上腺增生(CAH),通过遗传分析证实。考虑到临床,生物化学,和遗传发现,开始氢化可的松治疗,以防止BA快速加速和最终身高严重下降。在婴儿期,身材矮小和低水平的胰岛素样生长因子-1(IGF-1)的年龄和性别导致怀疑生长激素缺乏症(GHD),通过刺激测试(精氨酸和可乐定)证实。给予rhGH治疗并持续直至达到最终身高。在内分泌随访期间,她出现了葡萄糖耐量受损,β细胞自身免疫标志物呈阳性(抗谷氨酸脱羧酶抗体,GADAb),随着时间的推移发展为1型糖尿病,需要采用基础推注方案和适当饮食的胰岛素治疗.
Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11-13, associated with several complications, including pubertal disorders, short stature, hyperphagia, obesity, glucose metabolism abnormalities, scoliosis, obstructive sleep apnea syndrome (OSAS) and behavioral problems. We report the
case of a girl affected by PWS who presented at the age of 5.9 with premature pubarche, accelerated linear growth and advanced bone age (BA). She was subsequently diagnosed with non-classic congenital adrenal hyperplasia (CAH) confirmed by genetic analysis. Considering the clinical, biochemical, and genetic findings, hydrocortisone therapy was started to prevent rapid BA acceleration and severe compromission of final height. During infancy, short stature and low levels of insulin-like growth factor-1 (IGF-1) for age and gender led to suspicion of growth hormone deficiency (GHD), confirmed by stimulation testing (arginine and clonidine). rhGH therapy was administered and continued until final height was reached. During endocrinological follow up she developed impaired glucose tolerance with positive markers of β-cell autoimmunity (anti-glutamic acid decarboxylase antibodies, GAD Ab), which evolved over time into type 1 diabetes mellitus and insulin therapy with a basal-bolus scheme and an appropriate diet were needed.