Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, Liaoning, 110004, P. R. China.
BMC Pediatr. 2022 Aug 4;22(1):472. doi: 10.1186/s12887-022-03517-6.
Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging. Although congenital adrenal hyperplasia is the most common cause, more and more other genetic causes have been identified. GNAS mutation is easily overlooked as a rare cause of primary adrenal insufficiency. Here we firstly report a neonatal case of primary adrenal insufficiency caused by GNAS mutation.
A boy was diagnosed with congenital hypothyroidism 10 days post-partum and treated immediately. He also had persistent hyperkalaemia and hyponatraemia with elevated adrenocorticotropic hormone. At 70 days after birth, he was transferred to our hospital on suspicion of congenital adrenal hyperplasia. Physical examination found no other abnormalities except for growth retardation. Laboratory examination revealed increased aldosterone and normal cortisol, 17-hydroxyprogesterone, and androstenedione levels. Abnormally elevated parathyroid hormone was accompanied by normal blood calcium. Genetic assessment found a de novo, heterozygous c.432 + 1G > A variant in GNAS.
We report this case to highlight that GNAS mutation is an unusual cause of primary adrenal insufficiency. The combination of primary hypothyroidism and /or pseudohypoparathyroidism will provide diagnostic clues to this condition.
儿童原发性肾上腺功能不全具有非特异性和广泛的临床特征，因此其病因的诊断复杂且具有挑战性。尽管先天性肾上腺增生症是最常见的原因，但越来越多的其他遗传原因已被确定。GNAS 突变作为原发性肾上腺功能不全的罕见原因很容易被忽视。本文首次报道了一例由 GNAS 突变引起的新生儿原发性肾上腺功能不全。
一名男婴出生后 10 天被诊断为先天性甲状腺功能减退症，并立即进行治疗。他还持续存在高钾血症和低钠血症伴促肾上腺皮质激素升高。出生后 70 天，因疑似先天性肾上腺增生症转入我院。体格检查除生长迟滞外无其他异常。实验室检查发现醛固酮升高，皮质醇、17-羟孕酮和雄烯二酮水平正常。甲状旁腺激素异常升高伴血钙正常。基因评估发现 GNAS 基因 c.432+1G＞A 杂合性新生突变。
我们报告此病例以强调 GNAS 突变是原发性肾上腺功能不全的不常见原因。原发性甲状腺功能减退症和/或假性甲状旁腺功能减退症的组合将为这种疾病提供诊断线索。
