Endocrine Abstracts

Background: X-linked adrenoleukodystrophy (X-ALD) is a hereditary disease that occurs in boys in childhood and adolescence, with cases being rarer in adulthood. Primary adrenal insufficiency (PSI) is present in more than 50% of patients and in 10% it is the only manifestation

Case report: 24-year-old male, diagnosed with primary adrenal insufficiency as a child. The pathological history included dyslipidemia, obesity, prediabetes and parietospastic gait as possible involvement of the 1st motor neuron. Family history of the index case: Maternal family without any living male, mother had 5 brothers, males who died from vomiting, hyperpigmentation, dehydration. When reviewing his medical history, the etiology of PSI was not identified, so additional tests were requested. Anti-21 hydroxylase (anti-21OH) antibodies were negative and abdominal CT showed a mildly hypoplastic right adrenal gland. Given the negativity of these 2 tests in a man with neurological involvement and a family history, genetic etiology was suspected and very long chain fatty acids (LCGML) in plasma were requested: still pending. The genetic study demonstrated the ABCD1 gene mutation (NM_000033.4). Identified variant: c.355G>C (pAla119Pro). This variant is classified as probably pathogenic because: it is located in a gene where missense-type variants are usually pathogenic; and is described in the ClinVar database (ID: 585356) as a variant of uncertain clinical significance. As of the date of issuance of this report, it has not been described in the scientific literature consulted