Endocrine Abstracts

JOINT742

Introduction: Adrenoleukodystrophy (ADL) is a rare genetic disease characterized by abnormal metabolism of very long-chain fatty acids due to mutations in the ABCD1 gene, which leads to their accumulation in the central and peripheral nervous system, adrenal cortex and gonads. The disease has a variable clinical spectrum and prognosis.

Results: Patient U., 41 y.o., with complaints of severe general weakness, dizziness, decreased blood pressure, dyspepsia, had chronic adrenal insufficiency for the first time. ADL was established at the age of 6 (family history: my brother has ADL with severe myeloneuropathy, my cousin has cerebral ADL). Since the age of 15, he had not received special treatment, he was constantly worried about weakness, and he added salt to his food. The deterioration of the condition, provoked by errors in the diet, was accompanied by vomiting, hypotension, and progressive weakness. Seeking medical help led to the diagnosis of pancreatitis and relief from infusion therapy during the day. The condition worsened after a day - BMI - 16 kg/m², skin with slight hyperpigmentation, muscles are hypotrophic, blood pressure 80-50 mm Hg. Facial hair is sparse. Laboratory data: hyponatremia (125.68 mmol/l), hyperkalemia (6.71 mmol/l), daily cortisol profile (after administration of glucocorticoids for emergency indications) 185 - 107,8 - 64,1 nmol/l (79-536 nmol/l), ACTH from 01/15/2025: at 8.00 - 1312 pg/ml (7.2 - 63.3 pg/ml), testosterone -2.4 nmol/l (8.64 – 29 nmol/l) with an increase in LH and FSH levels. The diagnosis: primary adrenal insufficiency, hopogonadism on the background of adrenoleukodystrophy with minimal manifestations of myodoneuropathy. Parenteral glucocorticoid therapy was initiated from 300 mg/day with infusion therapy with dose reduction and transfer to oral (hydrocortisone 20 mg/day in the morning, fludrocortisone 0.1 mg in the afternoon). The patient’s condition improved, weakness was relieved, blood pressure was 110/70 mmHg, hyperpigmentation decreased, and electrolyte levels returned to normal.

Conclusion: In addition to neurological symptoms, ADL is accompanied by the development of adrenal insufficiency and hypogonadism, which can develop at any age.