Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia.
Saudi J Gastroenterol. 2012 Sep-Oct;18(5):339-41. doi: 10.4103/1319-3767.101137.
For decades, congenital panhypopituitarism has been recognized to cause infantile cholestasis. However, the identity of the hormone whose deficiency causes such derangement of the liver is not clear. Here, we report four cases of isolated severe cortisol deficiency presenting with neonatal cholestasis and hypoglycemia, of whom two had familial primary glucocorticoid deficiency and the other two had isolated adrenocorticotropin deficiency. The resolution of cholestasis by hydrocortisone replacement therapy suggests a causal relationship between cortisol deficiency and the development of neonatal cholestasis. In conclusion, the presentation of a young infant with cholestasis and hypoglycemia should alert pediatricians to the possibility of cortisol deficiency and prompt investigation of adrenal function should be undertaken.
数十年来，人们已经认识到先天性全垂体功能减退会导致婴儿期胆汁淤积。然而，导致这种肝脏功能紊乱的激素的身份尚不清楚。在这里，我们报告了 4 例孤立性严重皮质醇缺乏症新生儿胆汁淤积和低血糖的病例，其中 2 例有家族性原发性糖皮质激素缺乏症，另外 2 例有孤立性促肾上腺皮质激素缺乏症。氢化可的松替代治疗使胆汁淤积消退表明皮质醇缺乏与新生儿胆汁淤积的发生之间存在因果关系。总之，对于出现胆汁淤积和低血糖的婴儿，儿科医生应该警惕皮质醇缺乏的可能性，并应及时进行肾上腺功能检查。
