Prasad Namburi Rajendra, Reddy Ponnala Amaresh, Karthik T S, Chakravarthy Mithun, Ahmed Faizal
Department of Endocrinology, Narayana Medical College and Hospital, Chinthareddypalem, Nellore, Andhra Pradesh, India.
Indian J Endocrinol Metab. 2012 Dec;16(Suppl 2):S307-9. doi: 10.4103/2230-8210.104070.
Silver-Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body.
We are presenting a case of SRS with growth hormone (GH) deficiency and urogenital abnormalities.
A 15-year-old boy a product of non-consanguineous marriage brought with a history of short stature and poor development of secondary sexual characters. There were no adverse perinatal events, but weighed 1500 g (<3(rd)centile) at birth. He had delayed developmental milestones. He has had a poor appetite and feeding difficulties since childhood. On physical examination, he had a broad forehead, triangular facies, and low-set prominent ears. Asymmetry of the face, upper and lower extremities was noted, with hemihypertrophy on the right side. His height was 119 cm (<3(rd)centile) and weight was 18 kg which were low (<3(rd)centile) as per his age. He was biochemically euthyroid and GH stimulation testing with clonidine (0.15 mg/m(2)) showed low GH levels at 30', 60', and 90' were 1.7, 1.6, and 1.1ng/ml, respectively. On micturatingcystourethrogram, grade V complex was noted on the right side. Dimercaptosuccinic acid (DMSA) showed normal functioning kidneys. He was started on recombinant GH with a height velocity of 10 cm/year.
Urogenital abnormalities are rare but well described anomalies associated with SRS, and all cases have to be screened for them. GH deficiency is not uncommon in SRS, and GH treatment proves to be beneficial.
Silver-Russell综合征（SRS）是一种非常罕见的遗传性疾病。其通常表现为身体两半或其他部位大小不对称。
我们报告一例伴有生长激素（GH）缺乏和泌尿生殖系统异常的SRS病例。
一名15岁男孩，非近亲结婚所生，因身材矮小和第二性征发育不良前来就诊。围产期无不良事件，但出生时体重1500克（<第3百分位数）。他发育里程碑延迟。自童年起食欲差且喂养困难。体格检查发现，他额头宽阔、面部呈三角形、耳朵低位且突出。面部、上肢和下肢不对称，右侧有半侧肥大。按照他的年龄，其身高119厘米（<第3百分位数），体重18千克（<第3百分位数），均偏低。生化检查甲状腺功能正常，可乐定（0.15毫克/平方米）GH刺激试验显示，30分钟、60分钟和90分钟时的GH水平较低，分别为1.7、1.6和1.1纳克/毫升。排尿性膀胱尿道造影显示右侧有V级复杂性病变。二巯基丁二酸（DMSA）显示肾脏功能正常。开始给他使用重组GH，身高增长速度为每年10厘米。
泌尿生殖系统异常是与SRS相关的罕见但已得到充分描述的异常情况，所有病例都必须进行筛查。GH缺乏在SRS中并不罕见，GH治疗被证明是有益的。
