失音症：一种极其罕见的先天性泌尿生殖系统畸形——病例报告
Aphalia: An Extremely Rare Congenital Genitourinary Malformation-A Case Report.
作者信息
Berhane Melkamu, Abera Gersam, Alemu Seifu, Eshetu Beza
机构信息
Department of Pediatric and Child Health, Jimma University.
Department of Surgery, Jimma University.
出版信息
Ethiop J Health Sci. 2019 May;29(3):409-412. doi: 10.4314/ejhs.v29i3.14.
BACKGROUND
Congenital aphalia is an extremely rare, urogenital malformation of the external genitalia characterized by congenitally absent penis in a karotypically XY child. It occurs 1 in 30 million live births. So far, only less than 100 cases have been reported.
CASE DETAILS
A 3-hour old newborn was diagnosed with aphalia after being referred from health center for respiratory distress and congenital malformation of the external genitalia. He had deranged renal function tests, hypoplastic kidneys, small patent foramen ovale and ventricular septal defect. Management of the acute conditions and parental counseling were done, but he passed away on the 8 day of life, due to the underlying diseases.
CONCLUSION
A patient with aphalia needs thorough evaluation for possible associated malformations. Management is multistaged and multidisciplinary. Parental counselling should be started as early as possible, and their decision should be respected.
背景
先天性无阴茎是一种极其罕见的外生殖器泌尿生殖系统畸形，其特征为核型为XY的儿童先天性阴茎缺如。每3000万活产儿中出现1例。迄今为止，报告的病例不足100例。
病例详情
一名3小时大的新生儿因呼吸窘迫和外生殖器先天性畸形从健康中心转诊后被诊断为无阴茎。他的肾功能检查紊乱，肾脏发育不全，卵圆孔未闭且有室间隔缺损。对急性病症进行了处理并对家长进行了咨询，但他在出生第8天因基础疾病去世。
结论
无阴茎患者需要对可能存在的相关畸形进行全面评估。治疗是多阶段且多学科的。应尽早开始对家长进行咨询，并尊重他们的决定。
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