Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal.
Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal.
Endocrinol Diabetes Nutr (Engl Ed). 2023 Jun-Jul;70(6):421-428. doi: 10.1016/j.endien.2022.01.010.
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder affecting particularly the nervous tissue and adrenal cortex. Adrenomyeloneuropathy (AMN) is the most frequent phenotype, although adrenal insufficiency is usually the first manifestation in male patients. We set out to describe the clinical and biochemical features, together with the clinical course of X-ALD patients, focusing particularly on endocrine dysfunction.
A retrospective study of 10 male X-ALD patients followed up at the Endocrinology Department. Epidemiologic data, phenotype evolution, endocrine and neurological findings and family history were analysed.
All the patients presented with adrenal insufficiency, 4 of them during adulthood, with a mean age of 19.6±17.1 years (6-64 years). Six patients had mineralocorticoid deficiency. At diagnosis, 8 patients had Addison-only phenotype and 2 AMN phenotype. In the course of follow-up (24.9±16.1 years), 4 patients developed AMN about 25.0±7.4 years after the initial diagnosis and 2 patients presented the cerebral adult form 11 and 17 years after the initial diagnosis. Testosterone levels were within the normal range in all patients. There were 7 families, and age of onset and clinical course were similar in 3 of them.
The presentation of X-ALD varied widely, 40% of the patients presented with adrenal insufficiency in adulthood, 60% had mineralocorticoid deficiency, and the onset and progression of neurological manifestations showed no pattern. Nevertheless, some similarities in the clinical course were found in some families. Our findings reinforce the need for screening for X-ALD at any age when approaching adrenal insufficiency and the importance of a multidisciplinary approach between endocrinologists and neurologists.
X 连锁肾上腺脑白质营养不良（X-ALD）是一种影响神经组织和肾上腺皮质的过氧化物酶体疾病。肾上腺脑白质营养不良（AMN）是最常见的表型，尽管肾上腺皮质功能不全通常是男性患者的首发表现。我们旨在描述 X-ALD 患者的临床和生化特征，以及疾病过程，特别关注内分泌功能障碍。
对内分泌科随访的 10 名男性 X-ALD 患者进行回顾性研究。分析了流行病学数据、表型演变、内分泌和神经学发现以及家族史。
所有患者均出现肾上腺皮质功能不全，其中 4 例发生于成年期，平均年龄为 19.6±17.1 岁（6-64 岁）。6 例患者存在盐皮质激素缺乏。诊断时，8 例患者仅有肾上腺皮质功能不全表型，2 例为 AMN 表型。在随访过程中（24.9±16.1 年），4 例患者在最初诊断后约 25.0±7.4 年出现 AMN，2 例患者在最初诊断后 11 年和 17 年出现成人脑型。所有患者的睾酮水平均在正常范围内。有 7 个家系，其中 3 个家系的发病年龄和临床过程相似。
X-ALD 的表现多种多样，40%的患者在成年期出现肾上腺皮质功能不全，60%的患者存在盐皮质激素缺乏，神经表现的发病和进展无规律可循。然而，在一些家族中发现了一些临床过程的相似性。我们的研究结果强调了在出现肾上腺皮质功能不全时，应在任何年龄进行 X-ALD 筛查，以及内分泌学家和神经学家之间采取多学科方法的重要性。
