X连锁先天性肾上腺发育不全(AHC)主要由NR0B1(DAX1)基因突变引起。其中,由于NR0B1的大量缺失而导致的X-连接的AHC是极其罕见的。在韩国,2005年报告了第一例病例,此后没有进一步记录病例。在这里,我们报道了一个由包括NR0B1基因和其他7个基因的完整基因缺失引起的X连锁AHC的独特病例。一个7天大的男孩出现在儿科内分泌诊所,产后黄疸时间延长,皮肤色素沉着过度,低钠血症,和高钾血症,暗示肾上腺危象.在基因分析中,先天性肾上腺皮质增生症(CAH)的下一代测序组显示无变异.然而,染色体微阵列结果显示Xp21.2(29,655,007_30,765,126)的大缺失,包括八个蛋白质编码基因(NR0B1,IL1RAPL1,GK,MAGEB1-4,TASL)。在非典型肾上腺功能不全和遗传未诊断的CAH的情况下,应怀疑与NR0B1相关的AHC,因为Xp21缺失非常罕见,在NGS中没有检测到,使微阵列成为基因诊断的最佳选择。
X-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, suggestive of an adrenal crisis. In genetic analysis, next-generation sequencing panel for congenital adrenal hyperplasia (CAH) showed no variants. However, chromosomal microarray results revealed large deletion of Xp21.2 (29,655,007_30,765,126) including eight protein-coding genes (NR0B1, IL1RAPL1, GK, MAGEB1-4, TASL). In cases of atypical adrenal insufficiency and genetically undiagnosed CAH, NR0B1-related AHC should be suspected, as Xp21 deletion is very rare and not detected in NGS, making microarray the best option for genetic diagnosis.