PDF(Pubmed)
Abstract：
Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age, congenital glaucoma, polycystic kidney disease, cholestatic hepatic fibrosis, pancreatic exocrine insufficiency, developmental delay, dysmorphic facial features, sensorineural deafness, osteopenia, and skeletal anomalies are other accompanying phenotypic features in the 22 cases described so far. We present a male patient with neonatal diabetes, CH, congenital glaucoma, developmental delay, and facial dysmorphism. During the patient’s 17-year follow-up, no signs of exocrine pancreatic insufficiency, liver and kidney diseases, deafness, osteopenia, and bone fracture were observed. A homozygous exon 10-11 deletion was detected in the GLIS3 gene. We report one of the oldest surviving GLIS3 mutation case with main findings of neonatal diabetes and CH syndrome to contribute to the characterization of the genotypic and phenotypic spectra of the syndrome.
摘要：
新生儿糖尿病和先天性甲状腺功能低下综合征（NDH）是由GLIS3基因的纯合或复合杂合突变引起的罕见疾病。小于胎龄（SGA），先天性青光眼,多囊肾病,胆汁淤积性肝纤维化，胰腺外分泌功能不全,发育迟缓,畸形面部特征，感觉神经性耳聋,骨质减少,到目前为止，在22例病例中，骨骼异常是其他伴随的表型特征。我们介绍了一个新生儿糖尿病的男性病例，先天性甲状腺功能减退症,先天性青光眼,发育迟缓,和面部畸形特征。在患者的17年随访期间，没有胰腺外分泌功能不全的迹象,肝脏和肾脏疾病，耳聋,骨质减少,并观察骨折。在GLIS3基因中检测到纯合外显子10-11缺失。我们报告了幸存的最古老的GLIS3突变病例之一，主要发现是新生儿糖尿病和先天性甲状腺功能低下综合征，有助于表征该综合征的基因型和表型谱。
