Chakraborty Partha Pratim, Patra Shinjan, Biswas Sugata Narayan, Barman Himanshu
Department of Medicine, Midnapore Medical College, Midnapore, West Bengal, India.
BMJ Case Rep. 2018 Mar 23;2018:bcr-2017-223723. doi: 10.1136/bcr-2017-223723.
Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. Many of them have pancreatic structural abnormalities as well. A plethora of extrapancreatic manifestations like altered liver function tests, hypomagnesaemia, hyperuricaemia with/without gout and urogenital malformations, particularly in females are also components of the syndrome. Structural malformation of male urogenital tract is rare in MODY 5, even rarer is asthenospermia. We encountered a young non-obese individual having insulin-requiring diabetes following secondary oral agent failure with primary male factor infertility secondary to asthenospermia. A suggestive family history, lack of acanthosis, negative pancreatic autoimmunity, hypomagnesaemia, bilateral renal and epididymal cysts, and absence of body and tail of pancreas pointed towards underlying MODY 5.
肝细胞核因子-1β基因的突变会导致一种多系统综合征，其中单基因形式的糖尿病（青少年发病的成年型糖尿病5型；MODY 5）和肾脏异常，通常为双侧多发性囊肿是最典型的表现。他们中的许多人也有胰腺结构异常。大量胰腺外表现，如肝功能检查异常、低镁血症、伴或不伴痛风的高尿酸血症以及泌尿生殖系统畸形，尤其是女性的泌尿生殖系统畸形，也是该综合征的组成部分。男性泌尿生殖道结构畸形在MODY 5中罕见，弱精子症则更为罕见。我们遇到一名年轻的非肥胖个体，在口服降糖药继发失效后需要胰岛素治疗，且因弱精子症继发原发性男性因素不育。提示性的家族史、无黑棘皮症、胰腺自身免疫阴性、低镁血症、双侧肾囊肿和附睾囊肿，以及胰腺体尾部缺如指向潜在的MODY 5。
