X-LINKED ADRENOLEUKODYSTROPHY CHARACTERIZED BY ADRENOCORTICAL INSUFFICIENCY: A CASE REPORT WITH 16-YEAR FOLLOW-UP

Long-Jiang Zhang*, MD; Xiang-Lei Li, MM; Zhe Su, MD; Xia Liu, MM; Qin Zhang, MD; Hong-Tao Qi, MM

Department of Endocrinology, Shenzhen Children’s Hospital, Shenzhen 518000, Guangdong, China

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common genetic peroxisomal disease. Its clinical manifestations are diverse, and its progression highly varies. In the present study, an X-ALD patient was followed-up for 16 years to investigate the clinical manifestations and disease progression.
Case presentation: One X-ALD patient was regularly followed-up and re-examined. The patient developed the disease at four years old, which mainly manifested as primary adrenocortical insufficiency with decreased level of serum cortisol and increased serum cortiocotropin, accompanied by hypothyroidism with increased serum thyrotropin level. Furthermore, the level of serum very-long-chain fatty acids were elevated (C26, 1.72 nmol/ml; C24/C22, 1.57 nmol/ml; C26/C22, 0.038 nmol/ml). The genetic test revealed that there was a mutation in exon 1 of the ABCD1 gene, c.565C>T(p.R189W). Follow-up observations were performed for 16 years. At present, the patient is 20 years old, without neurological abnormalities. Hydrocortisone and levothyroxine tablets are supplemented daily to maintain normal thyroid function. The auxiliary hair development was at stage A1, while pubic hair development was at stage PH4. The bilateral testes are 15 ml in size. The levels of androstenedione (<0.3 ng/ml) and dehydroepiandrosterone sulfate (24.50 μg/dl) were low.
Conclusion: X-ALD affects multiple systems in the human body, and may be mainly characterized by primary adrenocortical insufficiency. Furthermore, this may also affect the production of androgen in the adrenal cortex, together with the thyroid function.