Marques Jorge Sales, Aires Sónia
Pediatr Endocrinol Rev. 2015 Sep;13(1):455-7.
Turner syndrome (TS) is an important cause of short stature in girls. Patients with TS most often do not have growth hormone deficiency (GHD). Testing GH secretion is not indicated despite the presence of short stature. In the last 20 years only three cases were reported with this association in Pubmed. We describe a case of an 11 year old girl with short stature and karyotype confirmed TS: 45,X(16)46,X,i(X)(ql0)(13). Because her growth velocity was low (-3 SD), we evaluated the GH response with stimulating tests and the results were under the normal range. These findings were compatible with GHD. It is important to check for GHD in patients with TS whenever the growth velocity is low for age and sex.
特纳综合征(TS)是女童身材矮小的重要原因。TS患者大多不存在生长激素缺乏(GHD)。尽管身材矮小,但不建议进行生长激素分泌检测。在过去20年里,PubMed仅报道了3例这种关联的病例。我们描述了一例11岁身材矮小且核型确诊为TS的女孩:45,X(16)46,X,i(X)(q10)(13)。由于她的生长速度较低(-3标准差),我们通过刺激试验评估生长激素反应,结果在正常范围以下。这些发现符合GHD。对于TS患者,只要其生长速度低于同年龄和性别的正常范围,检查是否存在GHD就很重要。