Uyangoda Kanchana, Kamalanathan Phirarthana, Mettananda Sachith
Colombo North Teaching Hospital, Ragama, 11010, Sri Lanka.
Department of Paediatrics, Faculty of Medicine, University of Kelaniya, Thalagolla Raod, Ragama, 11010, Sri Lanka.
J Med Case Rep. 2019 Sep 4;13(1):280. doi: 10.1186/s13256-019-2206-5.
Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Most patients are diagnosed following episodes of hypoglycemia or convulsion. We report the case of an infant with familial glucocorticoid deficiency who presented with hyperpigmentation, gigantism, and motor developmental delay without documented hypoglycemia, convulsion, or circulatory collapse.
A 10-month-old Sri Lankan Sinhalese baby boy born to consanguineous parents presented with generalized hyperpigmentation and overgrowth since birth. He had marginal gross motor developmental delay. His weight, length, and head circumference were above normal range for his age. Investigations revealed low serum cortisol and high adrenocorticotrophic hormone levels with no cortisol response following adrenocorticotropin stimulation. Serum electrolytes and aldosterone levels were normal. A diagnosis of familial glucocorticoid deficiency was made based on isolated glucocorticoid deficiency, hyperpigmentation, and tall stature.
This case report highlights that glucocorticoid deficiency can present without documented hypoglycemia and circulatory collapse and a high degree of suspicion is needed in diagnosis.
家族性糖皮质激素缺乏症是一种罕见的常染色体隐性疾病，其特征为单纯性糖皮质激素缺乏。大多数患者在出现低血糖或惊厥发作后被诊断出来。我们报告一例家族性糖皮质激素缺乏症婴儿病例，该婴儿表现为色素沉着、巨人症和运动发育迟缓，无低血糖、惊厥或循环衰竭的记录。
一名10个月大的斯里兰卡僧伽罗男婴，其父母为近亲结婚，自出生以来就出现全身色素沉着和生长过速。他有轻度的大运动发育迟缓。他的体重、身长和头围均高于其年龄的正常范围。检查发现血清皮质醇水平低，促肾上腺皮质激素水平高，促肾上腺皮质激素刺激后无皮质醇反应。血清电解质和醛固酮水平正常。根据单纯性糖皮质激素缺乏、色素沉着和身材高大，诊断为家族性糖皮质激素缺乏症。
本病例报告强调，糖皮质激素缺乏症可能在无低血糖和循环衰竭记录的情况下出现，诊断时需要高度怀疑。
