Department of Neonatology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Neonatology. 2011;100(3):277-81. doi: 10.1159/000323913. Epub 2011 Jun 23.
Familial glucocorticoid deficiency (FGD) or hereditary unresponsiveness to adrenocorticotropin (ACTH) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency associated with normal mineralocorticoid secretion. Mutations in genes encoding either ACTH receptor or melanocortin 2 receptor accessory protein are responsible for the disease in about 50% of cases, named FGD type 1 and type 2, respectively. Patients may present with hyperpigmentation, recurrent infections, failure to thrive, hypoglycemic seizures, and coma in infancy or early childhood. Here we report the case of a 17-day-old newborn diagnosed with FGD type 1 who presented with hyperbilirubinemia and hyperpigmentation, a sign which was erroneously assumed to be due to prolonged phototherapy by the referring physician. Hormone analysis showed low cortisol and high ACTH levels with normal serum electrolytes and renin-aldosterone axis. Genetic analysis revealed a novel homozygous melanocortin 2 receptor mutation p.Leu225Arg in the patient. The healthy parents were heterozygous for the mutation.
家族性糖皮质激素缺乏症（FGD）或遗传性对促肾上腺皮质激素（ACTH）无反应是一种常染色体隐性疾病，其特征是孤立性糖皮质激素缺乏症，伴有正常的盐皮质激素分泌。大约 50%的病例中，编码 ACTH 受体或黑素皮质素 2 受体辅助蛋白的基因突变分别导致 FGD 1 型和 2 型。患者可能在婴儿期或幼儿期出现高色素沉着、反复感染、生长不良、低血糖性癫痫发作和昏迷。在此，我们报告了一例 17 天大的新生儿被诊断为 FGD 1 型，该患儿表现为高胆红素血症和高色素沉着，该体征被转诊医生错误地归因于长时间光疗。激素分析显示皮质醇低，ACTH 水平高，血清电解质和肾素-血管紧张素轴正常。基因分析显示患者存在黑素皮质素 2 受体突变 p.Leu225Arg，为纯合子突变。健康的父母均为该突变的杂合子。
