Fu Yong, Nie Min, Xia Wei-Bo, Lu Lin, Mao Jiang-Feng, Pan Hui, Wu Xue-Yan, Zhao Wei-Gang
Department of Endocrinology, Chinese Academy of Medical Sciences, Beijing 100730, China.
Zhonghua Yi Xue Za Zhi. 2010 Aug 10;90(30):2119-22.
To study the clinical features of 9 patients with X-linked adrenal hypoplasia congenita (AHC) by gene sequencing so as to provide diagnostic rationales.
The patients were 9 cases of X-linked AHC treated at our hospital from July 2007 to June 2009. The clinical manifestations were analyzed. The blood biochemistry tests and the hormone examinations including luteinizing hormone-releasing hormone (LHRH) stimulation tests and human chorionic gonadotropin (HCG) stimulation tests were conducted to evaluate the functions of gonads. And CT scans of adrenal glands and gene tests of DAX1/NR0B1 were performed.
Nine AHC patients from 8 families were studied. All patients had DAX1/NR0B1 gene mutations. The main clinical features were: (1) some patients (3 families) had a family history of X-linked recessive inheritance; (2) the ages of onset were all below 10 years old (from 2 month after birth to 9 years old) and ages of being treated at our hospital were from 15 to 34 years old; (3) all patients had adrenocortical hypofunctions, but clinical situations were different, most of them had pigmentation (n = 9), nausea and vomiting (n = 8), hypotension (n = 6), Addisonian crisis (n = 4). Others were debility, hypoglycemia and cold susceptibility. Laboratory tests indicated that all patients had hyponatremia at the onset and higher blood adrenocorticotropic hormone level, lower blood 17-hydroxyprogesterone level compared to normal controls; (4) none of the patients had puberty and there was no responses to LHRH stimulation tests, 3 of them had normal responses to HCG stimulation tests; (5) small bilateral adrenal glands were displayed on CT scans.
The main clinical features of X-linked AHC are adrenocortical hypofunction and hypogonadotropic hypogonadism. But the phenotypes vary greatly in different patients. So male children with adrenal cortical hypofunction should be suspected of X-linked AHC and DAX1/NR0B1 gene tests should be performed. The sexual development of the patients also should be followed up.
通过基因测序研究9例X连锁先天性肾上腺发育不全（AHC）患者的临床特征，为诊断提供依据。
研究对象为2007年7月至2009年6月在我院治疗的9例X连锁AHC患者。分析其临床表现，进行血生化检查及激素检查，包括促黄体生成素释放激素（LHRH）兴奋试验和人绒毛膜促性腺激素（HCG）兴奋试验以评估性腺功能，并进行肾上腺CT扫描及DAX1/NR0B1基因检测。
对来自8个家系的9例AHC患者进行了研究。所有患者均有DAX1/NR0B1基因突变。主要临床特征为：（1）部分患者（3个家系）有X连锁隐性遗传家族史；（2）发病年龄均在10岁以下（从出生后2个月至9岁），在我院就诊年龄为15至34岁；（3）所有患者均有肾上腺皮质功能减退，但临床表现各异，多数有色素沉着（n = 9）、恶心呕吐（n = 8）、低血压（n = 6）、肾上腺危象（n = 4），其他还有乏力、低血糖和易感冒。实验室检查显示所有患者发病时均有低钠血症，血促肾上腺皮质激素水平升高，血17-羟孕酮水平低于正常对照；（4）所有患者均未进入青春期，对LHRH兴奋试验无反应，3例对HCG兴奋试验反应正常；（5）CT扫描显示双侧肾上腺小。
X连锁AHC的主要临床特征为肾上腺皮质功能减退和低促性腺激素性腺功能减退。但不同患者的表型差异很大。因此，对肾上腺皮质功能减退的男童应怀疑X连锁AHC，并应进行DAX1/NR0B1基因检测，同时还应对患者的性发育进行随访。
