Dumic M, Gubarev N, Sikic N, Roscher A, Plavsic V, Filipovic-Grcic B
Department of Pediatrics, University Hospital, Rebro, Zagreb, Yugoslavia.
Am J Med Genet. 1992 Jul 15;43(5):829-32. doi: 10.1002/ajmg.1320430515.
We describe two sisters (40 and 42 years old) heterozygous for adrenoleukodystrophy who have multiple endocrine disorders. In addition to the characteristic neurological symptoms, the younger patient has Addison disease and primary hypothyroidism attributable to autoimmune thyroiditis, and the older one has Graves disease. Both patients have loss of body hair and sparse scalp hair, which have not been reported previously in women heterozygous for adrenoleukodystrophy. After the institution of glucocorticoid replacement therapy, the younger sister, who has adrenal insufficiency, has shown unexpected neurological improvement.
我们描述了两名患有肾上腺脑白质营养不良的杂合子姐妹（分别为40岁和42岁），她们患有多种内分泌疾病。除了典型的神经症状外，较年轻的患者患有艾迪生病以及由自身免疫性甲状腺炎引起的原发性甲状腺功能减退症，而较年长的患者患有格雷夫斯病。两名患者均有体毛脱落和头皮毛发稀疏的症状，这在肾上腺脑白质营养不良杂合子女性中此前尚未有过报道。在开始糖皮质激素替代治疗后，患有肾上腺功能不全的妹妹出现了意想不到的神经功能改善。
