Al Jneibi Fatima, Hen Tawfiq, Rajah Jaishen, Nair Rajendran
Pediatric Department, Sheikh Khalifa Medical City (SKMC), Abu Dhabi (AD), United Arab Emirates.
Dermatoendocrinol. 2017 Apr 6;9(1):e1310787. doi: 10.1080/19381980.2017.1310787. eCollection 2017.
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive condition, characterized by marked atrophy of zona fasiculata and reticalaris with preservation of zona glomerulosa. Out of more than 50 published cases, 18 patients died as a result of glucocorticoid insufficiency. The main objective of this report is to emphasize the early diagnosis and treatment in our 17 month-old patient. Her presenting features following an upper respiratory tract infection were hypoglycemia, seizures as well as deep hyperpigmentation of the limbs and lips. A low cortisol concentration, elevated ACTH level and normal electrolytes and aldosterone level all supported the diagnosis of primary glucocorticoid deficiency. Parents were counseled about the diagnosis, management and the lifelong requirement of steroids. FGD is an easily treatable disease when recognized but frequently missed due to a non-specific presentation. FGD is a treatable disease, delayed diagnosis and treatment can lead to significant morbidity.
家族性糖皮质激素缺乏症（FGD）是一种罕见的常染色体隐性疾病，其特征是束状带和网状带明显萎缩，而球状带保持正常。在已发表的50多例病例中，有18例患者因糖皮质激素不足而死亡。本报告的主要目的是强调对我们这位17个月大患者的早期诊断和治疗。她在上呼吸道感染后的表现为低血糖、癫痫发作以及四肢和嘴唇深度色素沉着。低皮质醇浓度、升高的促肾上腺皮质激素水平以及正常的电解质和醛固酮水平均支持原发性糖皮质激素缺乏症的诊断。已向家长提供了有关诊断、管理以及终身使用类固醇的建议。FGD在被识别时是一种易于治疗的疾病，但由于表现不具特异性，常常被漏诊。FGD是一种可治疗的疾病，诊断和治疗延迟会导致严重的发病率。
