ESPE Abstracts

Keywords: Primary adrenal insufficiency, X-linked adrenoleukodystrophy, early manifestation

Background: The primary adrenal insufficiency (PAI) in patients with X-linked adrenoleukodystrophy (X-ALD) is known to develop commonly after three years of life and there are little cases with an early manifestation described. Here we report cases of early PAI manifestation in X-ALD patients.

Clinical cases description: Three patients with genetically confirmed X-ALD were referred to our institute. The patient A, 7 years old, had a loss of acquired skills, hypotension and fatigue in 1.3 years. In 1.5 years he was diagnosed with X-ALD due to positive family history (cerebral form of X-ALD (cALD) in patient’s brother). Blood examination showed elevated ACTH (914.4 pg/ml) and low serum cortisol (164.7 nmol/l) and PAI was diagnosed at 1.5 years. The combined hormonal replacement therapy (HRT) was started. The patient B, 13 years, was also diagnosed with PAI (ACTH 333 pg/ml) and X-ALD in 1.5 years due to positive family history (cALD in patient’s brother) without any sign of PAI. The HRT with hydrocortisone was initiated; fludrocortisone was added to the therapy at 2.6 years when the mineralocorticiod deficiency was diagnosed. The patient C, 13 years, was noted to have an increasing weakness, vomiting, seizures during the infectious diseases, hyperpigmentation of the skin at 1.5 years. The PAI was diagnosed at 3 years (ACTH 1250 pg/ml, cortisol 9 nmol/l) and HRT with hydrocortisone had been prescribed. Fludrocortisone was added to the therapy at 4.3 years. At the abstract publication time patients A and C have an isolated PAI as a form of X-ALD. Patient B was diagnosed with cALD at 4.5 years and undergone gene therapy with autologous CD34+ cells transduced with the elivaldogene tavalentivec during the BlueBirdBio trial of gene therapy in X-ALD patients. No data of disease progression received.

Conclusion: It is important to examine all male patients with PAI regardless of the manifestation age to exclude X-ALD. It is necessary to examine all male patients for the presence of PAI regardless of the diagnosis age of X-ALD.