PDF(Pubmed)
Abstract：
Hypoglycaemia is one of the most common causes of convulsions in neonatal period. Repeated hypoglycaemic convulsions have to be addressed with utmost urgency to prevent its morbid sequelae. Repeated ketotic hypoglycaemia in the infantile period needs detailed endocrine evaluation. Our patient is a boy in the third year of his life, had presented in infancy with hypoglycaemic convulsions and hyperpigmentation of skin and mucous membrane. Investigations revealed ketotic hypoglycaemia, hypocortisolaemia with high adrenocorticotropic hormone (ACTH) and normal aldosterone, 17-hydroxyprogesterone (17-OHP) and testosterone levels. This suggested isolated glucocorticoid deficiency without mineralocorticoid deficiency. He responded well to hydrocortisone therapy with resolution of symptoms and normalisation of lab parameters. Genetic study confirmed the diagnosis of familial glucocorticoid deficiency (FGD) with homozygous mutation in NNT (nicotinamide nucleotide transhydrogenase) gene with a novel p.Thr578lle variant. This is the first case of FGD with NNT mutation to be reported from the Indian subcontinent.
摘要：
低血糖是新生儿期惊厥的最常见原因之一。必须紧急解决反复的低血糖性惊厥，以防止其病态后遗症。婴儿期反复酮症性低血糖需要详细的内分泌评估。我们的病人是他生命第三年的男孩，在婴儿期出现低血糖性惊厥和皮肤和粘膜色素沉着过度。调查显示酮症性低血糖，低皮质醇血症伴高促肾上腺皮质激素（ACTH）和正常醛固酮，17-羟孕酮（17-OHP）和睾酮水平。这表明孤立的糖皮质激素缺乏而没有盐皮质激素缺乏。他对氢化可的松治疗反应良好，症状缓解，实验室参数正常化。遗传研究证实了家族性糖皮质激素缺乏症（FGD）的诊断，NNT（烟酰胺核苷酸转氨酶）基因具有纯合突变，具有新的p.Thr578lle变体。这是印度次大陆报道的首例具有NNT突变的FGD。
