ESPE Abstracts

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnosed with X-ALD by detecting Leydig cell dysfunction.

Case presentation: A 16-years and 4-months-old male patient applied to the outpatient clinic due to not entering puberty and the lack of deepening in his voice. On physical examination, his height (173.3 cm; SDS: -0.06), body weight (53 kg; SDS: -1.55), body mass index (16.7 kg/m²; SDS: -1.9), testicular volüme (25/25 ml), and stretched penile length (9.5 cm) were measured. His pubic hair growth was in stage-II. Remarkable laboratory test results were as follows: FSH: 3.34 mIU/ml, LH: 16.12 mIU/ml (0.5-8), total testosterone: 31 ng/dL (1.07 nmol/l) was detected. In laboratory tests on the inconsistency of the testosterone level with the testicular volume and the retardation of the pubic hair stage, ACTH was found 1014 pg/ml (223.3 pmol/l), cortisol: 3.5 µg/dL (96.5 nmol/l), DHEA-SO4: 10 µg/dL (0.27 µmol/L) and 1,4-Δandrostenedione: 0.12 ng/ml (0.41 nmol/l). A diagnosis of primary adrenal insufficiency and Leydig cell dysfunction was made. In the VLCFA panel, C24: 118.07 µmol/L (37.14-79.4), C26: 4.25 µmol/L (0.6-1.3), C24/C22: 1.97 (0.689-1.008), C26/C22: 0.07 (0.011-0.026) were higher. In his neurological examination, there was only slight inability in heel walking. In brain magnetic resonance imaging, hyperintense signal changes in the bilateral thalamus, posterior leg of the internal capsule, posterior pons, bilateral parieto-occipital white matter and corpus callosum splenium were observed in consistent with X-ALD. LOES score reported as 4. Hydrocortisone and Lorenzo’s oil treatments were initiated. The combined heterozygous mutation of the ABCD1 gene c.652C>A (p.P218T) (p.Pro218Thr)/c.698C>T (p.A233V) (p.Ala233Val) was detected. Clinical disease phenotyping in X-ALD and, if necessary, bone marrow transplantation were planned according to the clinical course.

Conclusion: The case, who applied to the outpatient clinic with pubertal delay and was diagnosed as Leydig cell dysfunction with relative retardation in pubic hair growth, incompatibility in testicular volumes and total testosterone levels, and elevated LH, and primary adrenal insufficiency and then diagnosed with X-ALD is presented for its rare clinical presentation.